Canonical Allele Identifier: CA363319360
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269379-T-G
gnomAD v4: 6-31269379-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269379T>G , CM000668.2:g.31269379T>G GRCh38
NC_000006.11:g.31237156T>G , CM000668.1:g.31237156T>G GRCh37
NC_000006.10:g.31345135T>G NCBI36
NG_029422.2:g.7753A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1055A>C MANE Select ENSP00000365402.5:p.Asn352Thr
ENST00000376228.9:c.1055A>C ENSP00000365402.5:p.Asn352Thr
ENST00000376237.8:c.*642A>C ENSP00000365412.4:n.*642A>C
ENST00000383329.7:c.1073A>C ENSP00000372819.3:p.Asn358Thr
ENST00000466892.5:n.288A>C
ENST00000470363.5:n.813A>C
ENST00000487245.5:n.1414A>C
NM_002117.5:c.1055A>C NP_002108.4:p.Asn352Thr
NM_002117.6:c.1055A>C MANE Select NP_002108.4:p.Asn352Thr