Canonical Allele Identifier: CA1949563907

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225551G= , CM000673.2:g.5225551G=	GRCh38
NC_000011.9:g.5246781G= , CM000673.1:g.5246781G=	GRCh37
NC_000011.8:g.5203357G=	NCBI36
NG_000007.3:g.72065C=
NG_059281.1:g.6521C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*47C=	ENSP00000494175.1:n.*47C=
ENST00000335295.4:c.*47C= MANE Select	ENSP00000333994.3:n.*47C=
ENST00000633227.1:c.*307C=	ENSP00000488004.1:n.*307C=
NM_000518.4:c.*47C=	NP_000509.1:n.*47C=
NM_000518.5:c.*47C= MANE Select	NP_000509.1:n.*47C=