Linked Data
ClinVar Variation Id:
2491128
ClinVar RCV Id:
RCV004280150
dbSNP Id:
rs1356262591
gnomAD v2:
21-40782012-G-A
gnomAD v4:
21-39410086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39410086G>A , CM000683.2:g.39410086G>A | GRCh38 |
| NC_000021.8:g.40782012G>A , CM000683.1:g.40782012G>A | GRCh37 |
| NC_000021.7:g.39703882G>A | NCBI36 |
| NG_045002.3:g.34800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288350.8:c.1175C>T (LCA5L) MANE Select | ENSP00000288350.3:p.Ala392Val | |
| ENST00000647779.1:c.336+18250G>A (GET1-SH3BGR) | ENSP00000497977.1:n.336+18250G>A | |
| ENST00000647911.1:c.*1308-758G>A (GET1) | ENSP00000497171.1:n.*1308-758G>A | |
| ENST00000648253.1:c.*245-758G>A (GET1-SH3BGR) | ENSP00000497295.1:n.*245-758G>A | |
| ENST00000649100.1:c.*1211-758G>A (GET1) | ENSP00000497111.1:n.*1211-758G>A | |
| ENST00000649499.1:c.606-758G>A (GET1) | ||
| ENST00000650208.1:n.460-758G>A (GET1) | ||
| ENST00000288350.7:c.1175C>T (LCA5L) | ENSP00000288350.3:p.Ala392Val | |
| ENST00000358268.6:c.1175C>T (LCA5L) | ENSP00000351008.2:p.Ala392Val | |
| ENST00000380671.6:c.1175C>T (LCA5L) | ENSP00000370046.2:p.Ala392Val | |
| ENST00000495240.1:n.230C>T (LCA5L) | ||
| ENST00000623703.3:c.*300-758G>A (GET1) | ENSP00000485555.1:n.*300-758G>A | |
| NM_152505.3:c.1175C>T (LCA5L) | NP_689718.1:p.Ala392Val | |
| XM_005260926.1:c.1175C>T (LCA5L) | XP_005260983.1:p.Ala392Val | |
| XM_006723967.1:c.1175C>T (LCA5L) | XP_006724030.1:p.Ala392Val | |
| XM_006723972.1:c.785C>T (LCA5L) | XP_006724035.1:p.Ala262Val | |
| XM_006723973.1:c.785C>T (LCA5L) | XP_006724036.1:p.Ala262Val | |
| XM_011529458.1:c.1322C>T (LCA5L) | XP_011527760.1:p.Ala441Val | |
| XM_011529459.1:c.1322C>T (LCA5L) | XP_011527761.1:p.Ala441Val | |
| XM_011529460.1:c.1322C>T (LCA5L) | XP_011527762.1:p.Ala441Val | |
| XM_011529461.1:c.1322C>T (LCA5L) | XP_011527763.1:p.Ala441Val | |
| XM_011529462.1:c.1322C>T (LCA5L) | XP_011527764.1:p.Ala441Val | |
| XM_011529463.1:c.1322C>T (LCA5L) | XP_011527765.1:p.Ala441Val | |
| XM_011529464.1:c.1322C>T (LCA5L) | XP_011527766.1:p.Ala441Val | |
| XM_011529465.1:c.1322C>T (LCA5L) | XP_011527767.1:p.Ala441Val | |
| XM_011529466.1:c.1322C>T (LCA5L) | XP_011527768.1:p.Ala441Val | |
| XM_011529467.1:c.1322C>T (LCA5L) | XP_011527769.1:p.Ala441Val | |
| XM_011529468.1:c.1322C>T (LCA5L) | XP_011527770.1:p.Ala441Val | |
| XM_011529469.1:c.1322C>T (LCA5L) | XP_011527771.1:p.Ala441Val | |
| XM_011529470.1:c.1322C>T (LCA5L) | XP_011527772.1:p.Ala441Val | |
| XM_011529471.1:c.1184C>T (LCA5L) | XP_011527773.1:p.Ala395Val | |
| XR_430378.2:n.2040-758G>A | ||
| XR_430379.2:n.94-758G>A | ||
| XR_937719.1:n.2040-758G>A | ||
| XR_937720.1:n.2040-758G>A | ||
| XR_937721.1:n.2040-758G>A | ||
| XR_937722.1:n.2040-758G>A | ||
| XR_937723.1:n.1352-758G>A | ||
| XR_937724.1:n.979-758G>A | ||
| XR_937725.1:n.2040-758G>A | ||
| XR_937726.1:n.2040-758G>A | ||
| XR_937727.1:n.2040-758G>A | ||
| XR_937728.1:n.2040-758G>A | ||
| XR_937729.1:n.166-758G>A | ||
| NM_001317744.1:c.336+18250G>A (GET1-SH3BGR) | NP_001304673.1:n.336+18250G>A | |
| NM_001350300.1:c.336+18250G>A (GET1-SH3BGR) | NP_001337229.1:n.336+18250G>A | |
| NR_146615.1:n.1104-758G>A (GET1) | ||
| NR_146618.1:n.908-758G>A (GET1-SH3BGR) | ||
| XM_011529463.2:c.1322C>T (LCA5L) | XP_011527765.1:p.Ala441Val | |
| XM_011529469.3:c.1322C>T (LCA5L) | XP_011527771.1:p.Ala441Val | |
| XM_017028274.1:c.785C>T (LCA5L) | XP_016883763.1:p.Ala262Val | |
| XM_017028275.1:c.785C>T (LCA5L) | XP_016883764.1:p.Ala262Val | |
| XM_017028276.1:c.785C>T (LCA5L) | XP_016883765.1:p.Ala262Val | |
| XM_017028277.1:c.785C>T (LCA5L) | XP_016883766.1:p.Ala262Val | |
| XM_017028278.2:c.785C>T (LCA5L) | XP_016883767.1:p.Ala262Val | |
| XM_024452055.1:c.1175C>T (LCA5L) | XP_024307823.1:p.Ala392Val | |
| XM_024452056.1:c.1175C>T (LCA5L) | XP_024307824.1:p.Ala392Val | |
| NM_001317744.2:c.336+18250G>A (GET1-SH3BGR) | NP_001304673.1:n.336+18250G>A | |
| NM_001350300.2:c.336+18250G>A (GET1-SH3BGR) | NP_001337229.1:n.336+18250G>A | |
| NR_146615.2:n.1023-758G>A (GET1) | ||
| NR_146618.2:n.826-758G>A (GET1-SH3BGR) | ||
| NM_001384285.1:c.1175C>T (LCA5L) | NP_001371214.1:p.Ala392Val | |
| NM_001384286.1:c.1175C>T (LCA5L) | NP_001371215.1:p.Ala392Val | |
| NM_001384287.1:c.1175C>T (LCA5L) | NP_001371216.1:p.Ala392Val | |
| NM_001384288.1:c.1175C>T (LCA5L) | NP_001371217.1:p.Ala392Val | |
| NM_001384289.1:c.1175C>T (LCA5L) | NP_001371218.1:p.Ala392Val | |
| NM_001384291.1:c.1175C>T (LCA5L) | NP_001371220.1:p.Ala392Val | |
| NM_001384292.1:c.785C>T (LCA5L) | NP_001371221.1:p.Ala262Val | |
| NM_001384293.1:c.785C>T (LCA5L) | NP_001371222.1:p.Ala262Val | |
| NM_001384294.1:c.785C>T (LCA5L) | NP_001371223.1:p.Ala262Val | |
| NM_001384295.1:c.785C>T (LCA5L) | NP_001371224.1:p.Ala262Val | |
| NM_001384296.1:c.785C>T (LCA5L) | NP_001371225.1:p.Ala262Val | |
| NM_152505.4:c.1175C>T (LCA5L) MANE Select | NP_689718.1:p.Ala392Val |