Canonical Allele Identifier: CA136862282
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs72558159
gnomAD v2: 6-31237513-T-C
gnomAD v3: 6-31269736-T-C
gnomAD v4: 6-31269736-T-C
MyVariant Identifiers: chr6:g.31237513T>C (hg19) chr6:g.31269736T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269736T>C , CM000668.2:g.31269736T>C GRCh38
NC_000006.11:g.31237513T>C , CM000668.1:g.31237513T>C GRCh37
NC_000006.10:g.31345492T>C NCBI36
NG_029422.2:g.7396A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1016-211A>G MANE Select ENSP00000365402.5:n.1016-211A>G
ENST00000376228.9:c.1016-211A>G ENSP00000365402.5:n.1016-211A>G
ENST00000376237.8:c.*603-211A>G ENSP00000365412.4:n.*603-211A>G
ENST00000383329.7:c.1016-193A>G ENSP00000372819.3:n.1016-193A>G
ENST00000470363.5:n.563A>G
ENST00000487245.5:n.1375-211A>G
NM_002117.5:c.1016-211A>G NP_002108.4:n.1016-211A>G
NM_002117.6:c.1016-211A>G MANE Select NP_002108.4:n.1016-211A>G
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