Canonical Allele Identifier: CA3710592
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs530888210
ExAC: 6:31238236 G / A
gnomAD v2: 6-31238236-G-A
gnomAD v3: 6-31270459-G-A
gnomAD v4: 6-31270459-G-A
MyVariant Identifiers: chr6:g.31238236G>A (hg19) chr6:g.31270459G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270459G>A , CM000668.2:g.31270459G>A GRCh38
NC_000006.11:g.31238236G>A , CM000668.1:g.31238236G>A GRCh37
NC_000006.10:g.31346215G>A NCBI36
NG_029422.2:g.6673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.646C>T MANE Select ENSP00000365402.5:p.His216Tyr
ENST00000376228.9:c.646C>T ENSP00000365402.5:p.His216Tyr
ENST00000376237.8:c.*233C>T ENSP00000365412.4:n.*233C>T
ENST00000383329.7:c.646C>T ENSP00000372819.3:p.His216Tyr
ENST00000415537.1:c.644C>T
ENST00000487245.5:n.1005C>T
ENST00000495835.1:n.835C>T
NM_002117.5:c.646C>T NP_002108.4:p.His216Tyr
NM_002117.6:c.646C>T MANE Select NP_002108.4:p.His216Tyr
Search 100 bp 5'
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