Canonical Allele Identifier: CA363046900

Gene: HLA-G

Linked Data

• dbSNP Id: rs901286567
• gnomAD v2: 6-29796455-C-T
• gnomAD v4: 6-29828678-C-T
• COSMIC: COSM1442938
• MyVariant Identifiers: chr6:g.29796455C>T (hg19) ; chr6:g.29828678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29828678C>T , CM000668.2:g.29828678C>T	GRCh38
NC_000006.11:g.29796455C>T , CM000668.1:g.29796455C>T	GRCh37
NC_000006.10:g.29904434C>T	NCBI36
NG_029039.1:g.6700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428701.6:n.583C>T
ENST00000360323.11:c.479C>T MANE Select	ENSP00000353472.6:p.Ala160Val
ENST00000360323.10:c.479C>T	ENSP00000353472.6:p.Ala160Val
ENST00000376815.3:c.343+362C>T	ENSP00000366011.3:n.343+362C>T
ENST00000376818.7:c.343+362C>T	ENSP00000366014.3:n.343+362C>T
ENST00000376828.6:c.494C>T	ENSP00000366024.2:p.Ala165Val
ENST00000428701.5:c.479C>T	ENSP00000412927.1:p.Ala160Val
ENST00000478355.5:n.479C>T
ENST00000478519.5:c.343+362C>T	ENSP00000436375.1:n.343+362C>T
NM_002127.5:c.479C>T	NP_002118.1:p.Ala160Val
NM_001363567.1:c.494C>T	NP_001350496.1:p.Ala165Val
XM_017010817.1:c.343+362C>T	XP_016866306.1:n.343+362C>T
XM_017010818.1:c.343+362C>T	XP_016866307.1:n.343+362C>T
XM_024446420.1:c.479C>T	XP_024302188.1:p.Ala160Val
NM_001363567.2:c.494C>T	NP_001350496.1:p.Ala165Val
NM_001384280.1:c.494C>T	NP_001371209.1:p.Ala165Val
NM_001384290.1:c.479C>T MANE Select	NP_001371219.1:p.Ala160Val
NM_002127.6:c.479C>T	NP_002118.1:p.Ala160Val