Canonical Allele Identifier: CA516582274

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042015A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015582A>C , CM000685.2:g.55015582A>C	GRCh38
NC_000023.10:g.55042015A>C , CM000685.1:g.55042015A>C	GRCh37
NC_000023.9:g.55058740A>C	NCBI36
NG_008983.1:g.20483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1164T>G MANE Select	ENSP00000497236.1:p.Thr388=
ENST00000330807.9:c.1164T>G	ENSP00000332369.5:p.Thr388=
ENST00000335854.8:c.1053T>G	ENSP00000337131.4:p.Thr351=
ENST00000396198.7:c.1125T>G	ENSP00000379501.3:p.Thr375=
ENST00000498636.1:n.455T>G
NM_000032.4:c.1164T>G	NP_000023.2:p.Thr388=
NM_001037967.3:c.1053T>G	NP_001033056.1:p.Thr351=
NM_001037968.3:c.1125T>G	NP_001033057.1:p.Thr375=
XM_005261995.2:c.1236T>G	XP_005262052.1:p.Thr412=
XM_011530771.1:c.303T>G	XP_011529073.1:p.Thr101=
NM_000032.5:c.1164T>G MANE Select	NP_000023.2:p.Thr388=
NM_001037967.4:c.1053T>G	NP_001033056.1:p.Thr351=
NM_001037968.4:c.1125T>G	NP_001033057.1:p.Thr375=