Canonical Allele Identifier: CA2513244690
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271586-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271586C>G , CM000668.2:g.31271586C>G GRCh38
NC_000006.11:g.31239363C>G , CM000668.1:g.31239363C>G GRCh37
NC_000006.10:g.31347342C>G NCBI36
NG_029422.2:g.5546G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.343+13G>C MANE Select ENSP00000365402.5:n.343+13G>C
ENST00000376228.9:c.343+13G>C ENSP00000365402.5:n.343+13G>C
ENST00000376237.8:c.343+13G>C ENSP00000365412.4:n.343+13G>C
ENST00000383329.7:c.343+13G>C ENSP00000372819.3:n.343+13G>C
ENST00000415537.1:c.341+13G>C
ENST00000484378.1:n.375G>C
ENST00000487245.5:n.465G>C
ENST00000495835.1:n.532+13G>C
NM_002117.5:c.343+13G>C NP_002108.4:n.343+13G>C
NM_002117.6:c.343+13G>C MANE Select NP_002108.4:n.343+13G>C
Search 100 bp 5'
Search 100 bp 3'