Canonical Allele Identifier: CA10428394

Gene: ALAS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020482C>T , CM000685.2:g.55020482C>T	GRCh38
NC_000023.10:g.55046915C>T , CM000685.1:g.55046915C>T	GRCh37
NC_000023.9:g.55063640C>T	NCBI36
NG_008983.1:g.15583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.445G>A	ENSP00000407204.2:p.Ala149Thr
ENST00000477869.6:c.334G>A	ENSP00000496725.1:p.Ala112Thr
ENST00000493869.2:c.327G>A	ENSP00000495713.1:p.Val109=
ENST00000650242.1:c.661G>A MANE Select	ENSP00000497236.1:p.Ala221Thr
ENST00000330807.9:c.661G>A	ENSP00000332369.5:p.Ala221Thr
ENST00000335854.8:c.550G>A	ENSP00000337131.4:p.Ala184Thr
ENST00000396198.7:c.622G>A	ENSP00000379501.3:p.Ala208Thr
ENST00000455688.1:c.516G>A
ENST00000463868.5:n.378G>A
ENST00000477869.5:n.405G>A
ENST00000493869.1:n.601G>A
NM_000032.4:c.661G>A	NP_000023.2:p.Ala221Thr
NM_001037967.3:c.550G>A	NP_001033056.1:p.Ala184Thr
NM_001037968.3:c.622G>A	NP_001033057.1:p.Ala208Thr
XM_005261995.2:c.733G>A	XP_005262052.1:p.Ala245Thr
XM_011530771.1:c.-201G>A	XP_011529073.1:n.-201G>A
NM_000032.5:c.661G>A MANE Select	NP_000023.2:p.Ala221Thr
NM_001037967.4:c.550G>A	NP_001033056.1:p.Ala184Thr
NM_001037968.4:c.622G>A	NP_001033057.1:p.Ala208Thr