Canonical Allele Identifier: CA324623

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009268C>T , CM000685.2:g.55009268C>T	GRCh38
NC_000023.10:g.55035701C>T , CM000685.1:g.55035701C>T	GRCh37
NC_000023.9:g.55052426C>T	NCBI36
NG_008983.1:g.26797G>A
NG_012568.1:g.13922C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.1676G>A MANE Select	NP_000023.2:p.Arg559His
ENST00000650242.1:c.1676G>A MANE Select	ENSP00000497236.1:p.Arg559His
NM_000032.4:c.1676G>A	NP_000023.2:p.Arg559His
NM_001037967.3:c.1565G>A	NP_001033056.1:p.Arg522His
NM_001037967.4:c.1565G>A	NP_001033056.1:p.Arg522His
NM_001037968.3:c.1637G>A	NP_001033057.1:p.Arg546His
NM_001037968.4:c.1637G>A	NP_001033057.1:p.Arg546His
ENST00000330807.9:c.1676G>A	ENSP00000332369.5:p.Arg559His
ENST00000335854.8:c.1565G>A	ENSP00000337131.4:p.Arg522His
ENST00000396198.7:c.1637G>A	ENSP00000379501.3:p.Arg546His
ENST00000498636.1:n.804G>A
XM_005261995.2:c.1748G>A	XP_005262052.1:p.Arg583His
XM_011530771.1:c.815G>A	XP_011529073.1:p.Arg272His