Canonical Allele Identifier: CA413295194

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020437G>T , CM000685.2:g.55020437G>T	GRCh38
NC_000023.10:g.55046870G>T , CM000685.1:g.55046870G>T	GRCh37
NC_000023.9:g.55063595G>T	NCBI36
NG_008983.1:g.15628C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.706C>A MANE Select	NP_000023.2:p.His236Asn
ENST00000650242.1:c.706C>A MANE Select	ENSP00000497236.1:p.His236Asn
NM_000032.4:c.706C>A	NP_000023.2:p.His236Asn
NM_001037967.3:c.595C>A	NP_001033056.1:p.His199Asn
NM_001037967.4:c.595C>A	NP_001033056.1:p.His199Asn
NM_001037968.3:c.667C>A	NP_001033057.1:p.His223Asn
NM_001037968.4:c.667C>A	NP_001033057.1:p.His223Asn
ENST00000330807.9:c.706C>A	ENSP00000332369.5:p.His236Asn
ENST00000335854.8:c.595C>A	ENSP00000337131.4:p.His199Asn
ENST00000396198.7:c.667C>A	ENSP00000379501.3:p.His223Asn
ENST00000455688.1:c.561C>A
ENST00000455688.2:c.490C>A	ENSP00000407204.2:p.His164Asn
ENST00000463868.5:n.423C>A
ENST00000477869.5:n.450C>A
ENST00000477869.6:c.379C>A	ENSP00000496725.1:p.His127Asn
ENST00000493869.1:n.646C>A
ENST00000493869.2:c.363+9C>A	ENSP00000495713.1:n.363+9C>A
XM_005261995.2:c.778C>A	XP_005262052.1:p.His260Asn
XM_011530771.1:c.-156C>A	XP_011529073.1:n.-156C>A