Canonical Allele Identifier: CA363046500
Gene: HLA-G HGNC NCBI

Linked Data

dbSNP Id: rs1760921226
gnomAD v3: 6-29828565-G-T
gnomAD v4: 6-29828565-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29828565G>T , CM000668.2:g.29828565G>T GRCh38
NC_000006.11:g.29796342G>T , CM000668.1:g.29796342G>T GRCh37
NC_000006.10:g.29904321G>T NCBI36
NG_029039.1:g.6587G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000428701.6:n.522-52G>T
ENST00000360323.11:c.366G>T MANE Select ENSP00000353472.6:p.Met122Ile
ENST00000360323.10:c.366G>T ENSP00000353472.6:p.Met122Ile
ENST00000376815.3:c.343+249G>T ENSP00000366011.3:n.343+249G>T
ENST00000376818.7:c.343+249G>T ENSP00000366014.3:n.343+249G>T
ENST00000376828.6:c.381G>T ENSP00000366024.2:p.Met127Ile
ENST00000428701.5:c.366G>T ENSP00000412927.1:p.Met122Ile
ENST00000478355.5:n.366G>T
ENST00000478519.5:c.343+249G>T ENSP00000436375.1:n.343+249G>T
NM_002127.5:c.366G>T NP_002118.1:p.Met122Ile
NM_001363567.1:c.381G>T NP_001350496.1:p.Met127Ile
XM_017010817.1:c.343+249G>T XP_016866306.1:n.343+249G>T
XM_017010818.1:c.343+249G>T XP_016866307.1:n.343+249G>T
XM_024446420.1:c.366G>T XP_024302188.1:p.Met122Ile
NM_001363567.2:c.381G>T NP_001350496.1:p.Met127Ile
NM_001384280.1:c.381G>T NP_001371209.1:p.Met127Ile
NM_001384290.1:c.366G>T MANE Select NP_001371219.1:p.Met122Ile
NM_002127.6:c.366G>T NP_002118.1:p.Met122Ile