Canonical Allele Identifier: CA1949564792

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225667T= , CM000673.2:g.5225667T=	GRCh38
NC_000011.9:g.5246897T= , CM000673.1:g.5246897T=	GRCh37
NC_000011.8:g.5203473T=	NCBI36
NG_000007.3:g.71949A=
NG_059281.1:g.6405A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.375A=	ENSP00000494175.1:p.Pro125=
ENST00000335295.4:c.375A= MANE Select	ENSP00000333994.3:p.Pro125=
ENST00000475226.1:n.307A=
ENST00000633227.1:c.*191A=	ENSP00000488004.1:n.*191A=
NM_000518.4:c.375A=	NP_000509.1:p.Pro125=
NM_000518.5:c.375A= MANE Select	NP_000509.1:p.Pro125=