Canonical Allele Identifier: CA363322779
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270467-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270467A>G , CM000668.2:g.31270467A>G GRCh38
NC_000006.11:g.31238244A>G , CM000668.1:g.31238244A>G GRCh37
NC_000006.10:g.31346223A>G NCBI36
NG_029422.2:g.6665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.638T>C MANE Select ENSP00000365402.5:p.Val213Ala
ENST00000376228.9:c.638T>C ENSP00000365402.5:p.Val213Ala
ENST00000376237.8:c.*225T>C ENSP00000365412.4:n.*225T>C
ENST00000383329.7:c.638T>C ENSP00000372819.3:p.Val213Ala
ENST00000415537.1:c.636T>C
ENST00000487245.5:n.997T>C
ENST00000495835.1:n.827T>C
NM_002117.5:c.638T>C NP_002108.4:p.Val213Ala
NM_002117.6:c.638T>C MANE Select NP_002108.4:p.Val213Ala