Canonical Allele Identifier: CA2430388722

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009251C= , CM000685.2:g.55009251C=	GRCh38
NC_000023.10:g.55035684C= , CM000685.1:g.55035684C=	GRCh37
NC_000023.9:g.55052409C=	NCBI36
NG_008983.1:g.26814G=
NG_012568.1:g.13905C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1693G= MANE Select	ENSP00000497236.1:p.Glu565=
ENST00000330807.9:c.1693G=	ENSP00000332369.5:p.Glu565=
ENST00000335854.8:c.1582G=	ENSP00000337131.4:p.Glu528=
ENST00000396198.7:c.1654G=	ENSP00000379501.3:p.Glu552=
ENST00000498636.1:n.821G=
NM_000032.4:c.1693G=	NP_000023.2:p.Glu565=
NM_001037967.3:c.1582G=	NP_001033056.1:p.Glu528=
NM_001037968.3:c.1654G=	NP_001033057.1:p.Glu552=
XM_005261995.2:c.1765G=	XP_005262052.1:p.Glu589=
XM_011530771.1:c.832G=	XP_011529073.1:p.Glu278=
NM_000032.5:c.1693G= MANE Select	NP_000023.2:p.Glu565=
NM_001037967.4:c.1582G=	NP_001033056.1:p.Glu528=
NM_001037968.4:c.1654G=	NP_001033057.1:p.Glu552=