Canonical Allele Identifier: CA379273764
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2920960
ClinVar RCV Id: RCV003736488

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226584T>A , CM000673.2:g.5226584T>A GRCh38
NC_000011.9:g.5247814T>A , CM000673.1:g.5247814T>A GRCh37
NC_000011.8:g.5204390T>A NCBI36
NG_000007.3:g.71032A>T
NG_059281.1:g.5488A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.308A>T ENSP00000494175.1:p.Asn103Ile
ENST00000335295.4:c.308A>T MANE Select ENSP00000333994.3:p.Asn103Ile
ENST00000475226.1:n.240A>T
ENST00000485743.1:n.359A>T
ENST00000633227.1:c.*124A>T ENSP00000488004.1:n.*124A>T
NM_000518.4:c.308A>T NP_000509.1:p.Asn103Ile
NM_000518.5:c.308A>T MANE Select NP_000509.1:p.Asn103Ile