Canonical Allele Identifier: CA10428238

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009266G>A , CM000685.2:g.55009266G>A	GRCh38
NC_000023.10:g.55035699G>A , CM000685.1:g.55035699G>A	GRCh37
NC_000023.9:g.55052424G>A	NCBI36
NG_008983.1:g.26799C>T
NG_012568.1:g.13920G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.1678C>T MANE Select	NP_000023.2:p.Arg560Cys
ENST00000650242.1:c.1678C>T MANE Select	ENSP00000497236.1:p.Arg560Cys
NM_000032.4:c.1678C>T	NP_000023.2:p.Arg560Cys
NM_001037967.3:c.1567C>T	NP_001033056.1:p.Arg523Cys
NM_001037967.4:c.1567C>T	NP_001033056.1:p.Arg523Cys
NM_001037968.3:c.1639C>T	NP_001033057.1:p.Arg547Cys
NM_001037968.4:c.1639C>T	NP_001033057.1:p.Arg547Cys
ENST00000330807.9:c.1678C>T	ENSP00000332369.5:p.Arg560Cys
ENST00000335854.8:c.1567C>T	ENSP00000337131.4:p.Arg523Cys
ENST00000396198.7:c.1639C>T	ENSP00000379501.3:p.Arg547Cys
ENST00000498636.1:n.806C>T
XM_005261995.2:c.1750C>T	XP_005262052.1:p.Arg584Cys
XM_011530771.1:c.817C>T	XP_011529073.1:p.Arg273Cys