Canonical Allele Identifier: CA516582655

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55044028G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017595G>A , CM000685.2:g.55017595G>A	GRCh38
NC_000023.10:g.55044028G>A , CM000685.1:g.55044028G>A	GRCh37
NC_000023.9:g.55060753G>A	NCBI36
NG_008983.1:g.18470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.894C>T MANE Select	ENSP00000497236.1:p.Ala298=
ENST00000330807.9:c.894C>T	ENSP00000332369.5:p.Ala298=
ENST00000335854.8:c.783C>T	ENSP00000337131.4:p.Ala261=
ENST00000396198.7:c.855C>T	ENSP00000379501.3:p.Ala285=
ENST00000463868.5:n.611C>T
ENST00000498636.1:n.185C>T
NM_000032.4:c.894C>T	NP_000023.2:p.Ala298=
NM_001037967.3:c.783C>T	NP_001033056.1:p.Ala261=
NM_001037968.3:c.855C>T	NP_001033057.1:p.Ala285=
XM_005261995.2:c.966C>T	XP_005262052.1:p.Ala322=
XM_011530771.1:c.33C>T	XP_011529073.1:p.Ala11=
NM_000032.5:c.894C>T MANE Select	NP_000023.2:p.Ala298=
NM_001037967.4:c.783C>T	NP_001033056.1:p.Ala261=
NM_001037968.4:c.855C>T	NP_001033057.1:p.Ala285=