Canonical Allele Identifier: CA12385644
Gene: HLA-G HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29827129T>G
GRCh37 chr6:g.29794906T>G
gnomAD v2:
6:29794906 T / G
gnomAD v3:
6:29827129 T / G
gnomAD v4:
chr6-29827129-T-G
Joint Max Group AF 0.66431991 (SAS)
Genomes Max Group AF 0.64697526 (SAS)
Exomes Max Group AF 0.66438638 (SAS)
dbSNP:
2249863
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29827129T>G , CM000668.2:g.29827129T>G GRCh38
NC_000006.11:g.29794906T>G , CM000668.1:g.29794906T>G GRCh37
NC_000006.10:g.29902885T>G NCBI36
NG_029039.1:g.5151T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000428701.6:n.66+85T>G
ENST00000376828.6:c.6+85T>G ENSP00000366024.2:n.6+85T>G
ENST00000428701.5:c.-113+85T>G ENSP00000412927.1:n.-113+85T>G
NM_002127.5:c.-113+85T>G NP_002118.1:n.-113+85T>G
NM_001363567.1:c.6+85T>G NP_001350496.1:n.6+85T>G
NM_001363567.2:c.6+85T>G NP_001350496.1:n.6+85T>G
NM_001384280.1:c.6+85T>G NP_001371209.1:n.6+85T>G
NM_002127.6:c.-113+85T>G NP_002118.1:n.-113+85T>G
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