Linked Data
ClinVar Variation Id:
3118019
ClinVar RCV Id:
RCV004410330
dbSNP Id:
rs781006282
ExAC:
21:40800127 T / C
gnomAD v2:
21-40800127-T-C
gnomAD v3:
21-39428201-T-C
gnomAD v4:
21-39428201-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39428201T>C , CM000683.2:g.39428201T>C | GRCh38 |
| NC_000021.8:g.40800127T>C , CM000683.1:g.40800127T>C | GRCh37 |
| NC_000021.7:g.39721997T>C | NCBI36 |
| NG_045002.3:g.52915T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288350.8:c.293A>G (LCA5L) MANE Select | ENSP00000288350.3:p.Tyr98Cys | |
| ENST00000647779.1:c.337-34174T>C (GET1-SH3BGR) | ENSP00000497977.1:n.337-34174T>C | |
| ENST00000647911.1:c.*1677-31T>C (GET1) | ENSP00000497171.1:n.*1677-31T>C | |
| ENST00000648253.1:c.*613+2167T>C (GET1-SH3BGR) | ENSP00000497295.1:n.*613+2167T>C | |
| ENST00000648495.1:n.1917-123T>C (GET1) | ||
| ENST00000649499.1:c.1757-31T>C (GET1) | ||
| ENST00000650208.1:n.829-31T>C (GET1) | ||
| ENST00000288350.7:c.293A>G (LCA5L) | ENSP00000288350.3:p.Tyr98Cys | |
| ENST00000358268.6:c.293A>G (LCA5L) | ENSP00000351008.2:p.Tyr98Cys | |
| ENST00000380671.6:c.293A>G (LCA5L) | ENSP00000370046.2:p.Tyr98Cys | |
| ENST00000418018.5:c.293A>G (LCA5L) | ENSP00000404521.1:p.Tyr98Cys | |
| ENST00000448288.6:c.293A>G (LCA5L) | ENSP00000405598.2:p.Tyr98Cys | |
| ENST00000459939.5:n.272+930A>G (LCA5L) | ||
| ENST00000466954.5:n.738+930A>G (LCA5L) | ||
| ENST00000476914.1:n.165-31T>C (GET1) | ||
| ENST00000478273.5:c.70-31T>C (GET1) | ||
| ENST00000480690.1:n.117-123T>C (GET1) | ||
| ENST00000484878.5:n.344+987A>G (LCA5L) | ||
| ENST00000485895.6:c.293A>G (LCA5L) | ENSP00000475187.1:p.Tyr98Cys | |
| ENST00000490184.5:n.456-296A>G (LCA5L) | ||
| ENST00000491625.5:n.229+930A>G (LCA5L) | ||
| NM_152505.3:c.293A>G (LCA5L) | NP_689718.1:p.Tyr98Cys | |
| XM_005260926.1:c.293A>G (LCA5L) | XP_005260983.1:p.Tyr98Cys | |
| XM_006723967.1:c.293A>G (LCA5L) | XP_006724030.1:p.Tyr98Cys | |
| XM_006723972.1:c.-69+930A>G (LCA5L) | XP_006724035.1:n.-69+930A>G | |
| XM_006723973.1:c.-69+930A>G (LCA5L) | XP_006724036.1:n.-69+930A>G | |
| XM_011529458.1:c.293A>G (LCA5L) | XP_011527760.1:p.Tyr98Cys | |
| XM_011529459.1:c.293A>G (LCA5L) | XP_011527761.1:p.Tyr98Cys | |
| XM_011529460.1:c.293A>G (LCA5L) | XP_011527762.1:p.Tyr98Cys | |
| XM_011529461.1:c.293A>G (LCA5L) | XP_011527763.1:p.Tyr98Cys | |
| XM_011529462.1:c.293A>G (LCA5L) | XP_011527764.1:p.Tyr98Cys | |
| XM_011529463.1:c.293A>G (LCA5L) | XP_011527765.1:p.Tyr98Cys | |
| XM_011529464.1:c.293A>G (LCA5L) | XP_011527766.1:p.Tyr98Cys | |
| XM_011529465.1:c.293A>G (LCA5L) | XP_011527767.1:p.Tyr98Cys | |
| XM_011529466.1:c.293A>G (LCA5L) | XP_011527768.1:p.Tyr98Cys | |
| XM_011529467.1:c.293A>G (LCA5L) | XP_011527769.1:p.Tyr98Cys | |
| XM_011529468.1:c.293A>G (LCA5L) | XP_011527770.1:p.Tyr98Cys | |
| XM_011529469.1:c.293A>G (LCA5L) | XP_011527771.1:p.Tyr98Cys | |
| XM_011529470.1:c.293A>G (LCA5L) | XP_011527772.1:p.Tyr98Cys | |
| XM_011529471.1:c.293A>G (LCA5L) | XP_011527773.1:p.Tyr98Cys | |
| XR_430378.2:n.2463-123T>C | ||
| XR_430379.2:n.946-123T>C | ||
| XR_937719.1:n.2892-123T>C | ||
| XR_937720.1:n.2928-123T>C | ||
| XR_937721.1:n.2658-123T>C | ||
| XR_937722.1:n.2829-123T>C | ||
| XR_937723.1:n.2204-123T>C | ||
| XR_937724.1:n.1831-123T>C | ||
| XR_937726.1:n.2188-123T>C | ||
| XR_937727.1:n.2134-123T>C | ||
| XR_937729.1:n.1018-123T>C | ||
| NM_001317744.1:c.337-34174T>C (GET1-SH3BGR) | NP_001304673.1:n.337-34174T>C | |
| NM_001350300.1:c.337-34174T>C (GET1-SH3BGR) | NP_001337229.1:n.337-34174T>C | |
| NR_146615.1:n.1605-31T>C (GET1) | ||
| NR_146618.1:n.1276+2167T>C (GET1-SH3BGR) | ||
| XM_011529463.2:c.293A>G (LCA5L) | XP_011527765.1:p.Tyr98Cys | |
| XM_011529469.3:c.293A>G (LCA5L) | XP_011527771.1:p.Tyr98Cys | |
| XM_017028274.1:c.-69+930A>G (LCA5L) | XP_016883763.1:n.-69+930A>G | |
| XM_017028275.1:c.-69+930A>G (LCA5L) | XP_016883764.1:n.-69+930A>G | |
| XM_017028276.1:c.-69+930A>G (LCA5L) | XP_016883765.1:n.-69+930A>G | |
| XM_017028277.1:c.-69+930A>G (LCA5L) | XP_016883766.1:n.-69+930A>G | |
| XM_017028278.2:c.-69+930A>G (LCA5L) | XP_016883767.1:n.-69+930A>G | |
| XM_024452055.1:c.293A>G (LCA5L) | XP_024307823.1:p.Tyr98Cys | |
| XM_024452056.1:c.293A>G (LCA5L) | XP_024307824.1:p.Tyr98Cys | |
| NM_001317744.2:c.337-34174T>C (GET1-SH3BGR) | NP_001304673.1:n.337-34174T>C | |
| NM_001350300.2:c.337-34174T>C (GET1-SH3BGR) | NP_001337229.1:n.337-34174T>C | |
| NR_146615.2:n.1524-31T>C (GET1) | ||
| NR_146618.2:n.1194+2167T>C (GET1-SH3BGR) | ||
| NM_001384285.1:c.293A>G (LCA5L) | NP_001371214.1:p.Tyr98Cys | |
| NM_001384286.1:c.293A>G (LCA5L) | NP_001371215.1:p.Tyr98Cys | |
| NM_001384287.1:c.293A>G (LCA5L) | NP_001371216.1:p.Tyr98Cys | |
| NM_001384288.1:c.293A>G (LCA5L) | NP_001371217.1:p.Tyr98Cys | |
| NM_001384289.1:c.293A>G (LCA5L) | NP_001371218.1:p.Tyr98Cys | |
| NM_001384291.1:c.293A>G (LCA5L) | NP_001371220.1:p.Tyr98Cys | |
| NM_001384292.1:c.-69+930A>G (LCA5L) | NP_001371221.1:n.-69+930A>G | |
| NM_001384293.1:c.-69+930A>G (LCA5L) | NP_001371222.1:n.-69+930A>G | |
| NM_001384294.1:c.-68-4711A>G (LCA5L) | NP_001371223.1:n.-68-4711A>G | |
| NM_001384295.1:c.-69+930A>G (LCA5L) | NP_001371224.1:n.-69+930A>G | |
| NM_001384296.1:c.-69+930A>G (LCA5L) | NP_001371225.1:n.-69+930A>G | |
| NM_001384297.1:c.293A>G (LCA5L) | NP_001371226.1:p.Tyr98Cys | |
| NM_001384298.1:c.293A>G (LCA5L) | NP_001371227.1:p.Tyr98Cys | |
| NM_001384299.1:c.293A>G (LCA5L) | NP_001371228.1:p.Tyr98Cys | |
| NM_001384300.1:c.293A>G (LCA5L) | NP_001371229.1:p.Tyr98Cys | |
| NM_001384301.1:c.293A>G (LCA5L) | NP_001371230.1:p.Tyr98Cys | |
| NM_001384302.1:c.293A>G (LCA5L) | NP_001371231.1:p.Tyr98Cys | |
| NM_001384303.1:c.-69+930A>G (LCA5L) | NP_001371232.1:n.-69+930A>G | |
| NM_001384304.1:c.-69+930A>G (LCA5L) | NP_001371233.1:n.-69+930A>G | |
| NM_001384305.1:c.-69+930A>G (LCA5L) | NP_001371234.1:n.-69+930A>G | |
| NM_001384306.1:c.-68-4711A>G (LCA5L) | NP_001371235.1:n.-68-4711A>G | |
| NM_001384307.1:c.-69+930A>G (LCA5L) | NP_001371236.1:n.-69+930A>G | |
| NM_001384308.1:c.-69+930A>G (LCA5L) | NP_001371237.1:n.-69+930A>G | |
| NM_001384309.1:c.-69+930A>G (LCA5L) | NP_001371238.1:n.-69+930A>G | |
| NM_001384310.1:c.-69+930A>G (LCA5L) | NP_001371239.1:n.-69+930A>G | |
| NM_001384311.1:c.-69+930A>G (LCA5L) | NP_001371240.1:n.-69+930A>G | |
| NM_001384312.1:c.-68-4711A>G (LCA5L) | NP_001371241.1:n.-68-4711A>G | |
| NM_001384313.1:c.-69+930A>G (LCA5L) | NP_001371242.1:n.-69+930A>G | |
| NM_152505.4:c.293A>G (LCA5L) MANE Select | NP_689718.1:p.Tyr98Cys |