Canonical Allele Identifier: CA1949567571

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226604C= , CM000673.2:g.5226604C=	GRCh38
NC_000011.9:g.5247834C= , CM000673.1:g.5247834C=	GRCh37
NC_000011.8:g.5204410C=	NCBI36
NG_000007.3:g.71012G=
NG_059281.1:g.5468G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.288G=	ENSP00000494175.1:p.Lys96=
ENST00000335295.4:c.288G= MANE Select	ENSP00000333994.3:p.Lys96=
ENST00000475226.1:n.220G=
ENST00000485743.1:n.339G=
ENST00000633227.1:c.*104G=	ENSP00000488004.1:n.*104G=
NM_000518.4:c.288G=	NP_000509.1:p.Lys96=
NM_000518.5:c.288G= MANE Select	NP_000509.1:p.Lys96=