Canonical Allele Identifier: CA516582287

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042018T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015585T>G , CM000685.2:g.55015585T>G	GRCh38
NC_000023.10:g.55042018T>G , CM000685.1:g.55042018T>G	GRCh37
NC_000023.9:g.55058743T>G	NCBI36
NG_008983.1:g.20480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1161A>C MANE Select	ENSP00000497236.1:p.Gly387=
ENST00000330807.9:c.1161A>C	ENSP00000332369.5:p.Gly387=
ENST00000335854.8:c.1050A>C	ENSP00000337131.4:p.Gly350=
ENST00000396198.7:c.1122A>C	ENSP00000379501.3:p.Gly374=
ENST00000498636.1:n.452A>C
NM_000032.4:c.1161A>C	NP_000023.2:p.Gly387=
NM_001037967.3:c.1050A>C	NP_001033056.1:p.Gly350=
NM_001037968.3:c.1122A>C	NP_001033057.1:p.Gly374=
XM_005261995.2:c.1233A>C	XP_005262052.1:p.Gly411=
XM_011530771.1:c.300A>C	XP_011529073.1:p.Gly100=
NM_000032.5:c.1161A>C MANE Select	NP_000023.2:p.Gly387=
NM_001037967.4:c.1050A>C	NP_001033056.1:p.Gly350=
NM_001037968.4:c.1122A>C	NP_001033057.1:p.Gly374=