Canonical Allele Identifier: CA413295690

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021202C>T , CM000685.2:g.55021202C>T	GRCh38
NC_000023.10:g.55047635C>T , CM000685.1:g.55047635C>T	GRCh37
NC_000023.9:g.55064360C>T	NCBI36
NG_008983.1:g.14863G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.488G>A MANE Select	NP_000023.2:p.Arg163His
ENST00000650242.1:c.488G>A MANE Select	ENSP00000497236.1:p.Arg163His
NM_000032.4:c.488G>A	NP_000023.2:p.Arg163His
NM_001037967.3:c.377G>A	NP_001033056.1:p.Arg126His
NM_001037967.4:c.377G>A	NP_001033056.1:p.Arg126His
NM_001037968.3:c.449G>A	NP_001033057.1:p.Arg150His
NM_001037968.4:c.449G>A	NP_001033057.1:p.Arg150His
ENST00000330807.9:c.488G>A	ENSP00000332369.5:p.Arg163His
ENST00000335854.8:c.377G>A	ENSP00000337131.4:p.Arg126His
ENST00000396198.7:c.449G>A	ENSP00000379501.3:p.Arg150His
ENST00000455688.1:c.343G>A
ENST00000455688.2:c.272G>A	ENSP00000407204.2:p.Arg91His
ENST00000463868.5:n.356-698G>A
ENST00000477869.5:n.232G>A
ENST00000477869.6:c.161G>A	ENSP00000496725.1:p.Arg54His
ENST00000493869.1:n.428G>A
ENST00000493869.2:c.305-698G>A	ENSP00000495713.1:n.305-698G>A
XM_005261995.2:c.560G>A	XP_005262052.1:p.Arg187His
XM_011530771.1:c.-223-698G>A	XP_011529073.1:n.-223-698G>A