Canonical Allele Identifier: CA363320480
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270254-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270254T>A , CM000668.2:g.31270254T>A GRCh38
NC_000006.11:g.31238031T>A , CM000668.1:g.31238031T>A GRCh37
NC_000006.10:g.31346010T>A NCBI36
NG_029422.2:g.6878A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.851A>T MANE Select ENSP00000365402.5:p.His284Leu
ENST00000376228.9:c.851A>T ENSP00000365402.5:p.His284Leu
ENST00000376237.8:c.*438A>T ENSP00000365412.4:n.*438A>T
ENST00000383329.7:c.851A>T ENSP00000372819.3:p.His284Leu
ENST00000415537.1:c.742A>T
ENST00000470363.5:n.169A>T
ENST00000487245.5:n.1210A>T
ENST00000495835.1:n.1040A>T
NM_002117.5:c.851A>T NP_002108.4:p.His284Leu
NM_002117.6:c.851A>T MANE Select NP_002108.4:p.His284Leu