Canonical Allele Identifier: CA2524632146
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269187-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269187T>A , CM000668.2:g.31269187T>A GRCh38
NC_000006.11:g.31236964T>A , CM000668.1:g.31236964T>A GRCh37
NC_000006.10:g.31344943T>A NCBI36
NG_029422.2:g.7945A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1097-14A>T MANE Select ENSP00000365402.5:n.1097-14A>T
ENST00000376228.9:c.1097-14A>T ENSP00000365402.5:n.1097-14A>T
ENST00000376237.8:c.*684-14A>T ENSP00000365412.4:n.*684-14A>T
ENST00000383329.7:c.1115-14A>T ENSP00000372819.3:n.1115-14A>T
ENST00000466892.5:n.330-14A>T
ENST00000470363.5:n.855-14A>T
ENST00000487245.5:n.1456-14A>T
NM_002117.5:c.1097-14A>T NP_002108.4:n.1097-14A>T
NM_002117.6:c.1097-14A>T MANE Select NP_002108.4:n.1097-14A>T
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