Canonical Allele Identifier: CA1949564431

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225636C= , CM000673.2:g.5225636C=	GRCh38
NC_000011.9:g.5246866C= , CM000673.1:g.5246866C=	GRCh37
NC_000011.8:g.5203442C=	NCBI36
NG_000007.3:g.71980G=
NG_059281.1:g.6436G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.406G=	ENSP00000494175.1:p.Ala136=
ENST00000335295.4:c.406G= MANE Select	ENSP00000333994.3:p.Ala136=
ENST00000633227.1:c.*222G=	ENSP00000488004.1:n.*222G=
NM_000518.4:c.406G=	NP_000509.1:p.Ala136=
NM_000518.5:c.406G= MANE Select	NP_000509.1:p.Ala136=