Canonical Allele Identifier: CA2516811195
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270925-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270925C>T , CM000668.2:g.31270925C>T GRCh38
NC_000006.11:g.31238702C>T , CM000668.1:g.31238702C>T GRCh37
NC_000006.10:g.31346681C>T NCBI36
NG_029422.2:g.6207G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.619+148G>A MANE Select ENSP00000365402.5:n.619+148G>A
ENST00000376228.9:c.619+148G>A ENSP00000365402.5:n.619+148G>A
ENST00000376237.8:c.*206+148G>A ENSP00000365412.4:n.*206+148G>A
ENST00000383329.7:c.619+148G>A ENSP00000372819.3:n.619+148G>A
ENST00000415537.1:c.617+148G>A
ENST00000487245.5:n.978+148G>A
ENST00000495835.1:n.808+148G>A
NM_002117.5:c.619+148G>A NP_002108.4:n.619+148G>A
NM_002117.6:c.619+148G>A MANE Select NP_002108.4:n.619+148G>A
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