Canonical Allele Identifier: CA1949563920

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225555A= , CM000673.2:g.5225555A=	GRCh38
NC_000011.9:g.5246785A= , CM000673.1:g.5246785A=	GRCh37
NC_000011.8:g.5203361A=	NCBI36
NG_000007.3:g.72061T=
NG_059281.1:g.6517T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.*43T=	ENSP00000494175.1:n.*43T=
ENST00000335295.4:c.*43T= MANE Select	ENSP00000333994.3:n.*43T=
ENST00000633227.1:c.*303T=	ENSP00000488004.1:n.*303T=
NM_000518.4:c.*43T=	NP_000509.1:n.*43T=
NM_000518.5:c.*43T= MANE Select	NP_000509.1:n.*43T=