Canonical Allele Identifier: CA516582613

Gene: ALAS2

Linked Data

• gnomAD v4: X-55017523-G-C
• MyVariant Identifiers: chrX:g.55043956G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017523G>C , CM000685.2:g.55017523G>C	GRCh38
NC_000023.10:g.55043956G>C , CM000685.1:g.55043956G>C	GRCh37
NC_000023.9:g.55060681G>C	NCBI36
NG_008983.1:g.18542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.966C>G MANE Select	ENSP00000497236.1:p.Pro322=
ENST00000330807.9:c.966C>G	ENSP00000332369.5:p.Pro322=
ENST00000335854.8:c.855C>G	ENSP00000337131.4:p.Pro285=
ENST00000396198.7:c.927C>G	ENSP00000379501.3:p.Pro309=
ENST00000498636.1:n.257C>G
NM_000032.4:c.966C>G	NP_000023.2:p.Pro322=
NM_001037967.3:c.855C>G	NP_001033056.1:p.Pro285=
NM_001037968.3:c.927C>G	NP_001033057.1:p.Pro309=
XM_005261995.2:c.1038C>G	XP_005262052.1:p.Pro346=
XM_011530771.1:c.105C>G	XP_011529073.1:p.Pro35=
NM_000032.5:c.966C>G MANE Select	NP_000023.2:p.Pro322=
NM_001037967.4:c.855C>G	NP_001033056.1:p.Pro285=
NM_001037968.4:c.927C>G	NP_001033057.1:p.Pro309=