Canonical Allele Identifier: CA363322610

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270443-T-A
• gnomAD v4: 6-31270443-T-A
• MyVariant Identifiers: chr6:g.31238220T>A (hg19) ; chr6:g.31270443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270443T>A , CM000668.2:g.31270443T>A	GRCh38
NC_000006.11:g.31238220T>A , CM000668.1:g.31238220T>A	GRCh37
NC_000006.10:g.31346199T>A	NCBI36
NG_029422.2:g.6689A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.662A>T MANE Select	ENSP00000365402.5:p.His221Leu
ENST00000376228.9:c.662A>T	ENSP00000365402.5:p.His221Leu
ENST00000376237.8:c.*249A>T	ENSP00000365412.4:n.*249A>T
ENST00000383329.7:c.662A>T	ENSP00000372819.3:p.His221Leu
ENST00000415537.1:c.660A>T
ENST00000487245.5:n.1021A>T
ENST00000495835.1:n.851A>T
NM_002117.5:c.662A>T	NP_002108.4:p.His221Leu
NM_002117.6:c.662A>T MANE Select	NP_002108.4:p.His221Leu