Linked Data
dbSNP Id:
rs1434517722
gnomAD v2:
6-114622146-G-A
gnomAD v3:
6-114300982-G-A
gnomAD v4:
6-114300982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.114300982G>A , CM000668.2:g.114300982G>A | GRCh38 |
| NC_000006.11:g.114622146G>A , CM000668.1:g.114622146G>A | GRCh37 |
| NC_000006.10:g.114728839G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312719.10:c.-339+41213C>T (HS3ST5) MANE Select | ENSP00000427888.1:n.-339+41213C>T | |
| ENST00000312719.9:c.-339+41213C>T (HS3ST5) | ENSP00000427888.1:n.-339+41213C>T | |
| NR_125845.1:n.1800-39540G>A (HDAC2-AS2) | ||
| XM_006715379.2:c.-339+41213C>T (HS3ST5) | XP_006715442.1:n.-339+41213C>T | |
| XM_011535587.1:c.-339+40390C>T (HS3ST5) | XP_011533889.1:n.-339+40390C>T | |
| XR_942347.1:n.239+41213C>T (HS3ST5) | ||
| XM_017010470.1:c.-339+40390C>T (HS3ST5) | XP_016865959.1:n.-339+40390C>T | |
| XM_017010473.1:c.-335+40390C>T (HS3ST5) | XP_016865962.1:n.-335+40390C>T | |
| XM_017010474.2:c.-335+41213C>T (HS3ST5) | XP_016865963.1:n.-335+41213C>T | |
| NM_001387039.1:c.-227+40390C>T (HS3ST5) | NP_001373968.1:n.-227+40390C>T | |
| NM_001387040.1:c.-33+41213C>T (HS3ST5) | NP_001373969.1:n.-33+41213C>T | |
| NM_001387041.1:c.-335+41213C>T (HS3ST5) | NP_001373970.1:n.-335+41213C>T | |
| NM_001387042.1:c.-339+40390C>T (HS3ST5) | NP_001373971.1:n.-339+40390C>T | |
| NM_001387043.1:c.-335+40390C>T (HS3ST5) | NP_001373972.1:n.-335+40390C>T | |
| NM_001387044.1:c.-429+41213C>T (HS3ST5) | NP_001373973.1:n.-429+41213C>T | |
| NM_001387045.1:c.-434+41213C>T (HS3ST5) | NP_001373974.1:n.-434+41213C>T | |
| NM_001387046.1:c.-227+41213C>T (HS3ST5) | NP_001373975.1:n.-227+41213C>T | |
| NM_001387047.1:c.-434+40390C>T (HS3ST5) | NP_001373976.1:n.-434+40390C>T | |
| NM_153612.4:c.-339+41213C>T (HS3ST5) MANE Select | NP_705840.2:n.-339+41213C>T |