Canonical Allele Identifier: CA1087449630
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269285-A-G
gnomAD v4: 6-31269285-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269285A>G , CM000668.2:g.31269285A>G GRCh38
NC_000006.11:g.31237062A>G , CM000668.1:g.31237062A>G GRCh37
NC_000006.10:g.31345041A>G NCBI36
NG_029422.2:g.7847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1096+53T>C MANE Select ENSP00000365402.5:n.1096+53T>C
ENST00000376228.9:c.1096+53T>C ENSP00000365402.5:n.1096+53T>C
ENST00000376237.8:c.*683+53T>C ENSP00000365412.4:n.*683+53T>C
ENST00000383329.7:c.1114+53T>C ENSP00000372819.3:n.1114+53T>C
ENST00000466892.5:n.329+53T>C
ENST00000470363.5:n.854+53T>C
ENST00000487245.5:n.1455+53T>C
NM_002117.5:c.1096+53T>C NP_002108.4:n.1096+53T>C
NM_002117.6:c.1096+53T>C MANE Select NP_002108.4:n.1096+53T>C