Canonical Allele Identifier: CA1949564150

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225608T= , CM000673.2:g.5225608T=	GRCh38
NC_000011.9:g.5246838T= , CM000673.1:g.5246838T=	GRCh37
NC_000011.8:g.5203414T=	NCBI36
NG_000007.3:g.72008A=
NG_059281.1:g.6464A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.434A=	ENSP00000494175.1:p.Lys145=
ENST00000335295.4:c.434A= MANE Select	ENSP00000333994.3:p.Lys145=
ENST00000633227.1:c.*250A=	ENSP00000488004.1:n.*250A=
NM_000518.4:c.434A=	NP_000509.1:p.Lys145=
NM_000518.5:c.434A= MANE Select	NP_000509.1:p.Lys145=