Canonical Allele Identifier: CA2677950019
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269730-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269730G>A , CM000668.2:g.31269730G>A GRCh38
NC_000006.11:g.31237507G>A , CM000668.1:g.31237507G>A GRCh37
NC_000006.10:g.31345486G>A NCBI36
NG_029422.2:g.7402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-205C>T MANE Select ENSP00000365402.5:n.1016-205C>T
ENST00000376228.9:c.1016-205C>T ENSP00000365402.5:n.1016-205C>T
ENST00000376237.8:c.*603-205C>T ENSP00000365412.4:n.*603-205C>T
ENST00000383329.7:c.1016-187C>T ENSP00000372819.3:n.1016-187C>T
ENST00000470363.5:n.569C>T
ENST00000487245.5:n.1375-205C>T
NM_002117.5:c.1016-205C>T NP_002108.4:n.1016-205C>T
NM_002117.6:c.1016-205C>T MANE Select NP_002108.4:n.1016-205C>T