Canonical Allele Identifier: CA1949583608

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249456G= , CM000673.2:g.5249456G=	GRCh38
NC_000011.9:g.5270686G= , CM000673.1:g.5270686G=	GRCh37
NC_000011.8:g.5227262G=	NCBI36
NG_000007.3:g.48160C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000559.3:c.227C= (HBG1) MANE Select	NP_000550.2:p.Thr76=
ENST00000330597.5:c.227C= (HBG1) MANE Select	ENSP00000327431.4:p.Thr76=
NM_000559.2:c.227C= (HBG1)	NP_000550.2:p.Thr76=
ENST00000330597.3:c.227C= (HBG1)	ENSP00000327431.3:p.Thr76=
ENST00000620888.4:c.316-969C= (HBG2)	ENSP00000479637.1:n.316-969C=
ENST00000623781.1:c.128G=	ENSP00000485381.1:p.Cys43=
ENST00000632727.1:c.*96C= (HBG1)	ENSP00000488759.1:n.*96C=
ENST00000642908.1:c.316-969C=	ENSP00000495346.1:n.316-969C=
ENST00000647543.1:c.379-969C=	ENSP00000496470.1:n.379-969C=
ENST00000648735.1:n.278C= (HBG1)