Canonical Allele Identifier: CA413291773

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55013515T>C , CM000685.2:g.55013515T>C	GRCh38
NC_000023.10:g.55039948T>C , CM000685.1:g.55039948T>C	GRCh37
NC_000023.9:g.55056673T>C	NCBI36
NG_008983.1:g.22550A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.1571A>G MANE Select	NP_000023.2:p.His524Arg
ENST00000650242.1:c.1571A>G MANE Select	ENSP00000497236.1:p.His524Arg
NM_000032.4:c.1571A>G	NP_000023.2:p.His524Arg
NM_001037967.3:c.1460A>G	NP_001033056.1:p.His487Arg
NM_001037967.4:c.1460A>G	NP_001033056.1:p.His487Arg
NM_001037968.3:c.1532A>G	NP_001033057.1:p.His511Arg
NM_001037968.4:c.1532A>G	NP_001033057.1:p.His511Arg
ENST00000330807.9:c.1571A>G	ENSP00000332369.5:p.His524Arg
ENST00000335854.8:c.1460A>G	ENSP00000337131.4:p.His487Arg
ENST00000396198.7:c.1532A>G	ENSP00000379501.3:p.His511Arg
ENST00000498636.1:n.728+1232A>G
XM_005261995.2:c.1643A>G	XP_005262052.1:p.His548Arg
XM_011530771.1:c.710A>G	XP_011529073.1:p.His237Arg