Canonical Allele Identifier: CA363322617
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1165733814
gnomAD v2: 6-31238221-G-A
gnomAD v3: 6-31270444-G-A
gnomAD v4: 6-31270444-G-A
MyVariant Identifiers: chr6:g.31238221G>A (hg19) chr6:g.31270444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270444G>A , CM000668.2:g.31270444G>A GRCh38
NC_000006.11:g.31238221G>A , CM000668.1:g.31238221G>A GRCh37
NC_000006.10:g.31346200G>A NCBI36
NG_029422.2:g.6688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.661C>T MANE Select ENSP00000365402.5:p.His221Tyr
ENST00000376228.9:c.661C>T ENSP00000365402.5:p.His221Tyr
ENST00000376237.8:c.*248C>T ENSP00000365412.4:n.*248C>T
ENST00000383329.7:c.661C>T ENSP00000372819.3:p.His221Tyr
ENST00000415537.1:c.659C>T
ENST00000487245.5:n.1020C>T
ENST00000495835.1:n.850C>T
NM_002117.5:c.661C>T NP_002108.4:p.His221Tyr
NM_002117.6:c.661C>T MANE Select NP_002108.4:p.His221Tyr
Search 100 bp 5'
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