Canonical Allele Identifier: CA2430388716

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009242T= , CM000685.2:g.55009242T=	GRCh38
NC_000023.10:g.55035675T= , CM000685.1:g.55035675T=	GRCh37
NC_000023.9:g.55052400T=	NCBI36
NG_008983.1:g.26823A=
NG_012568.1:g.13896T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1702A= MANE Select	ENSP00000497236.1:p.Ser568=
ENST00000330807.9:c.1702A=	ENSP00000332369.5:p.Ser568=
ENST00000335854.8:c.1591A=	ENSP00000337131.4:p.Ser531=
ENST00000396198.7:c.1663A=	ENSP00000379501.3:p.Ser555=
ENST00000498636.1:n.830A=
NM_000032.4:c.1702A=	NP_000023.2:p.Ser568=
NM_001037967.3:c.1591A=	NP_001033056.1:p.Ser531=
NM_001037968.3:c.1663A=	NP_001033057.1:p.Ser555=
XM_005261995.2:c.1774A=	XP_005262052.1:p.Ser592=
XM_011530771.1:c.841A=	XP_011529073.1:p.Ser281=
NM_000032.5:c.1702A= MANE Select	NP_000023.2:p.Ser568=
NM_001037967.4:c.1591A=	NP_001033056.1:p.Ser531=
NM_001037968.4:c.1663A=	NP_001033057.1:p.Ser555=