Canonical Allele Identifier: CA363322288

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270407-T-A
• gnomAD v4: 6-31270407-T-A
• MyVariant Identifiers: chr6:g.31238184T>A (hg19) ; chr6:g.31270407T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270407T>A , CM000668.2:g.31270407T>A	GRCh38
NC_000006.11:g.31238184T>A , CM000668.1:g.31238184T>A	GRCh37
NC_000006.10:g.31346163T>A	NCBI36
NG_029422.2:g.6725A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.698A>T MANE Select	ENSP00000365402.5:p.Tyr233Phe
ENST00000376228.9:c.698A>T	ENSP00000365402.5:p.Tyr233Phe
ENST00000376237.8:c.*285A>T	ENSP00000365412.4:n.*285A>T
ENST00000383329.7:c.698A>T	ENSP00000372819.3:p.Tyr233Phe
ENST00000415537.1:c.664+32A>T
ENST00000470363.5:n.16A>T
ENST00000487245.5:n.1057A>T
ENST00000495835.1:n.887A>T
NM_002117.5:c.698A>T	NP_002108.4:p.Tyr233Phe
NM_002117.6:c.698A>T MANE Select	NP_002108.4:p.Tyr233Phe