Canonical Allele Identifier: CA363319392
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31269387-T-G
gnomAD v4: 6-31269387-T-G
MyVariant Identifiers: chr6:g.31237164T>G (hg19) chr6:g.31269387T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269387T>G , CM000668.2:g.31269387T>G GRCh38
NC_000006.11:g.31237164T>G , CM000668.1:g.31237164T>G GRCh37
NC_000006.10:g.31345143T>G NCBI36
NG_029422.2:g.7745A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1049-2A>C MANE Select ENSP00000365402.5:n.1049-2A>C
ENST00000376228.9:c.1049-2A>C ENSP00000365402.5:n.1049-2A>C
ENST00000376237.8:c.*636-2A>C ENSP00000365412.4:n.*636-2A>C
ENST00000383329.7:c.1067-2A>C ENSP00000372819.3:n.1067-2A>C
ENST00000466892.5:n.280A>C
ENST00000470363.5:n.807-2A>C
ENST00000487245.5:n.1408-2A>C
NM_002117.5:c.1049-2A>C NP_002108.4:n.1049-2A>C
NM_002117.6:c.1049-2A>C MANE Select NP_002108.4:n.1049-2A>C
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