Canonical Allele Identifier: CA2578564458
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269415-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269415C>T , CM000668.2:g.31269415C>T GRCh38
NC_000006.11:g.31237192C>T , CM000668.1:g.31237192C>T GRCh37
NC_000006.10:g.31345171C>T NCBI36
NG_029422.2:g.7717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1049-30G>A MANE Select ENSP00000365402.5:n.1049-30G>A
ENST00000376228.9:c.1049-30G>A ENSP00000365402.5:n.1049-30G>A
ENST00000376237.8:c.*636-30G>A ENSP00000365412.4:n.*636-30G>A
ENST00000383329.7:c.1067-30G>A ENSP00000372819.3:n.1067-30G>A
ENST00000466892.5:n.252G>A
ENST00000470363.5:n.807-30G>A
ENST00000487245.5:n.1408-30G>A
NM_002117.5:c.1049-30G>A NP_002108.4:n.1049-30G>A
NM_002117.6:c.1049-30G>A MANE Select NP_002108.4:n.1049-30G>A
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