Canonical Allele Identifier: CA217113828
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1217240
ClinVar RCV Id: RCV001582349 RCV001827533
dbSNP Id: rs63750519
MyVariant Identifiers: chr11:g.5247881T>A (hg19) chr11:g.5226651T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226651T>A , CM000673.2:g.5226651T>A GRCh38
NC_000011.9:g.5247881T>A , CM000673.1:g.5247881T>A GRCh37
NC_000011.8:g.5204457T>A NCBI36
NG_000007.3:g.70965A>T
NG_059281.1:g.5421A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.241A>T ENSP00000494175.1:p.Asn81Tyr
ENST00000335295.4:c.241A>T MANE Select ENSP00000333994.3:p.Asn81Tyr
ENST00000380315.2:c.241A>T ENSP00000369671.2:p.Asn81Tyr
ENST00000475226.1:n.173A>T
ENST00000485743.1:n.292A>T
ENST00000633227.1:c.*57A>T ENSP00000488004.1:n.*57A>T
NM_000518.4:c.241A>T NP_000509.1:p.Asn81Tyr
NM_000518.5:c.241A>T MANE Select NP_000509.1:p.Asn81Tyr
Search 100 bp 5'
Search 100 bp 3'