Canonical Allele Identifier: CA10428279

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55013554C>T , CM000685.2:g.55013554C>T	GRCh38
NC_000023.10:g.55039987C>T , CM000685.1:g.55039987C>T	GRCh37
NC_000023.9:g.55056712C>T	NCBI36
NG_008983.1:g.22511G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000032.5:c.1532G>A MANE Select	NP_000023.2:p.Arg511Gln
ENST00000650242.1:c.1532G>A MANE Select	ENSP00000497236.1:p.Arg511Gln
NM_000032.4:c.1532G>A	NP_000023.2:p.Arg511Gln
NM_001037967.3:c.1421G>A	NP_001033056.1:p.Arg474Gln
NM_001037967.4:c.1421G>A	NP_001033056.1:p.Arg474Gln
NM_001037968.3:c.1493G>A	NP_001033057.1:p.Arg498Gln
NM_001037968.4:c.1493G>A	NP_001033057.1:p.Arg498Gln
ENST00000330807.9:c.1532G>A	ENSP00000332369.5:p.Arg511Gln
ENST00000335854.8:c.1421G>A	ENSP00000337131.4:p.Arg474Gln
ENST00000396198.7:c.1493G>A	ENSP00000379501.3:p.Arg498Gln
ENST00000498636.1:n.728+1193G>A
XM_005261995.2:c.1604G>A	XP_005262052.1:p.Arg535Gln
XM_011530771.1:c.671G>A	XP_011529073.1:p.Arg224Gln