Canonical Allele Identifier: CA1949564788

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225666G= , CM000673.2:g.5225666G=	GRCh38
NC_000011.9:g.5246896G= , CM000673.1:g.5246896G=	GRCh37
NC_000011.8:g.5203472G=	NCBI36
NG_000007.3:g.71950C=
NG_059281.1:g.6406C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.376C=	ENSP00000494175.1:p.Pro126=
ENST00000335295.4:c.376C= MANE Select	ENSP00000333994.3:p.Pro126=
ENST00000475226.1:n.308C=
ENST00000633227.1:c.*192C=	ENSP00000488004.1:n.*192C=
NM_000518.4:c.376C=	NP_000509.1:p.Pro126=
NM_000518.5:c.376C= MANE Select	NP_000509.1:p.Pro126=