Canonical Allele Identifier: CA363046713

Gene: HLA-G

Linked Data

• dbSNP Id: rs1317292772
• gnomAD v4: 6-29828626-G-C
• MyVariant Identifiers: chr6:g.29796403G>C (hg19) ; chr6:g.29828626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29828626G>C , CM000668.2:g.29828626G>C	GRCh38
NC_000006.11:g.29796403G>C , CM000668.1:g.29796403G>C	GRCh37
NC_000006.10:g.29904382G>C	NCBI36
NG_029039.1:g.6648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428701.6:n.531G>C
ENST00000360323.11:c.427G>C MANE Select	ENSP00000353472.6:p.Asp143His
ENST00000360323.10:c.427G>C	ENSP00000353472.6:p.Asp143His
ENST00000376815.3:c.343+310G>C	ENSP00000366011.3:n.343+310G>C
ENST00000376818.7:c.343+310G>C	ENSP00000366014.3:n.343+310G>C
ENST00000376828.6:c.442G>C	ENSP00000366024.2:p.Asp148His
ENST00000428701.5:c.427G>C	ENSP00000412927.1:p.Asp143His
ENST00000478355.5:n.427G>C
ENST00000478519.5:c.343+310G>C	ENSP00000436375.1:n.343+310G>C
NM_002127.5:c.427G>C	NP_002118.1:p.Asp143His
NM_001363567.1:c.442G>C	NP_001350496.1:p.Asp148His
XM_017010817.1:c.343+310G>C	XP_016866306.1:n.343+310G>C
XM_017010818.1:c.343+310G>C	XP_016866307.1:n.343+310G>C
XM_024446420.1:c.427G>C	XP_024302188.1:p.Asp143His
NM_001363567.2:c.442G>C	NP_001350496.1:p.Asp148His
NM_001384280.1:c.442G>C	NP_001371209.1:p.Asp148His
NM_001384290.1:c.427G>C MANE Select	NP_001371219.1:p.Asp143His
NM_002127.6:c.427G>C	NP_002118.1:p.Asp143His