Canonical Allele Identifier: CA217112427
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 801192
ClinVar RCV Id: RCV000985752
dbSNP Id: rs281864530
MyVariant Identifiers: chr11:g.5246879A>T (hg19) chr11:g.5225649A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225649A>T , CM000673.2:g.5225649A>T GRCh38
NC_000011.9:g.5246879A>T , CM000673.1:g.5246879A>T GRCh37
NC_000011.8:g.5203455A>T NCBI36
NG_000007.3:g.71967T>A
NG_059281.1:g.6423T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.393T>A ENSP00000494175.1:p.Tyr131Ter
ENST00000335295.4:c.393T>A MANE Select ENSP00000333994.3:p.Tyr131Ter
ENST00000633227.1:c.*209T>A ENSP00000488004.1:n.*209T>A
NM_000518.4:c.393T>A NP_000509.1:p.Tyr131Ter
NM_000518.5:c.393T>A MANE Select NP_000509.1:p.Tyr131Ter
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