Canonical Allele Identifier: CA413294245

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55043937T>G (hg19) ; chrX:g.55017504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017504T>G , CM000685.2:g.55017504T>G	GRCh38
NC_000023.10:g.55043937T>G , CM000685.1:g.55043937T>G	GRCh37
NC_000023.9:g.55060662T>G	NCBI36
NG_008983.1:g.18561A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.985A>C MANE Select	ENSP00000497236.1:p.Thr329Pro
ENST00000330807.9:c.985A>C	ENSP00000332369.5:p.Thr329Pro
ENST00000335854.8:c.874A>C	ENSP00000337131.4:p.Thr292Pro
ENST00000396198.7:c.946A>C	ENSP00000379501.3:p.Thr316Pro
ENST00000498636.1:n.276A>C
NM_000032.4:c.985A>C	NP_000023.2:p.Thr329Pro
NM_001037967.3:c.874A>C	NP_001033056.1:p.Thr292Pro
NM_001037968.3:c.946A>C	NP_001033057.1:p.Thr316Pro
XM_005261995.2:c.1057A>C	XP_005262052.1:p.Thr353Pro
XM_011530771.1:c.124A>C	XP_011529073.1:p.Thr42Pro
NM_000032.5:c.985A>C MANE Select	NP_000023.2:p.Thr329Pro
NM_001037967.4:c.874A>C	NP_001033056.1:p.Thr292Pro
NM_001037968.4:c.946A>C	NP_001033057.1:p.Thr316Pro