Canonical Allele Identifier: CA363325274

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31271172-C-A
• gnomAD v4: 6-31271172-C-A
• MyVariant Identifiers: chr6:g.31238949C>A (hg19) ; chr6:g.31271172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271172C>A , CM000668.2:g.31271172C>A	GRCh38
NC_000006.11:g.31238949C>A , CM000668.1:g.31238949C>A	GRCh37
NC_000006.10:g.31346928C>A	NCBI36
NG_029422.2:g.5960G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.520G>T MANE Select	ENSP00000365402.5:p.Ala174Ser
ENST00000376228.9:c.520G>T	ENSP00000365402.5:p.Ala174Ser
ENST00000376237.8:c.*107G>T	ENSP00000365412.4:n.*107G>T
ENST00000383329.7:c.520G>T	ENSP00000372819.3:p.Ala174Ser
ENST00000415537.1:c.518G>T
ENST00000484378.1:n.789G>T
ENST00000487245.5:n.879G>T
ENST00000495835.1:n.709G>T
NM_002117.5:c.520G>T	NP_002108.4:p.Ala174Ser
NM_002117.6:c.520G>T MANE Select	NP_002108.4:p.Ala174Ser