Canonical Allele Identifier: CA449610433
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270436-G-T
gnomAD v4: 6-31270436-G-T
MyVariant Identifiers: chr6:g.31238213G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270436G>T , CM000668.2:g.31270436G>T GRCh38
NC_000006.11:g.31238213G>T , CM000668.1:g.31238213G>T GRCh37
NC_000006.10:g.31346192G>T NCBI36
NG_029422.2:g.6696C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.669C>A MANE Select ENSP00000365402.5:p.Ala223=
ENST00000376228.9:c.669C>A ENSP00000365402.5:p.Ala223=
ENST00000376237.8:c.*256C>A ENSP00000365412.4:n.*256C>A
ENST00000383329.7:c.669C>A ENSP00000372819.3:p.Ala223=
ENST00000415537.1:c.664+3C>A
ENST00000487245.5:n.1028C>A
ENST00000495835.1:n.858C>A
NM_002117.5:c.669C>A NP_002108.4:p.Ala223=
NM_002117.6:c.669C>A MANE Select NP_002108.4:p.Ala223=