Canonical Allele Identifier: CA413295647

Gene: ALAS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55021182G>T , CM000685.2:g.55021182G>T	GRCh38
NC_000023.10:g.55047615G>T , CM000685.1:g.55047615G>T	GRCh37
NC_000023.9:g.55064340G>T	NCBI36
NG_008983.1:g.14883C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.292C>A	ENSP00000407204.2:p.Arg98Ser
ENST00000477869.6:c.181C>A	ENSP00000496725.1:p.Arg61Ser
ENST00000493869.2:c.305-678C>A	ENSP00000495713.1:n.305-678C>A
ENST00000650242.1:c.508C>A MANE Select	ENSP00000497236.1:p.Arg170Ser
ENST00000330807.9:c.508C>A	ENSP00000332369.5:p.Arg170Ser
ENST00000335854.8:c.397C>A	ENSP00000337131.4:p.Arg133Ser
ENST00000396198.7:c.469C>A	ENSP00000379501.3:p.Arg157Ser
ENST00000455688.1:c.363C>A
ENST00000463868.5:n.356-678C>A
ENST00000477869.5:n.252C>A
ENST00000493869.1:n.448C>A
NM_000032.4:c.508C>A	NP_000023.2:p.Arg170Ser
NM_001037967.3:c.397C>A	NP_001033056.1:p.Arg133Ser
NM_001037968.3:c.469C>A	NP_001033057.1:p.Arg157Ser
XM_005261995.2:c.580C>A	XP_005262052.1:p.Arg194Ser
XM_011530771.1:c.-223-678C>A	XP_011529073.1:n.-223-678C>A
NM_000032.5:c.508C>A MANE Select	NP_000023.2:p.Arg170Ser
NM_001037967.4:c.397C>A	NP_001033056.1:p.Arg133Ser
NM_001037968.4:c.469C>A	NP_001033057.1:p.Arg157Ser