Canonical Allele Identifier: CA413294515

Gene: ALAS2

Linked Data

• gnomAD v4: X-55017600-C-T
• MyVariant Identifiers: chrX:g.55044033C>T (hg19) ; chrX:g.55017600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017600C>T , CM000685.2:g.55017600C>T	GRCh38
NC_000023.10:g.55044033C>T , CM000685.1:g.55044033C>T	GRCh37
NC_000023.9:g.55060758C>T	NCBI36
NG_008983.1:g.18465G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.889G>A MANE Select	ENSP00000497236.1:p.Ala297Thr
ENST00000330807.9:c.889G>A	ENSP00000332369.5:p.Ala297Thr
ENST00000335854.8:c.778G>A	ENSP00000337131.4:p.Ala260Thr
ENST00000396198.7:c.850G>A	ENSP00000379501.3:p.Ala284Thr
ENST00000463868.5:n.606G>A
ENST00000498636.1:n.180G>A
NM_000032.4:c.889G>A	NP_000023.2:p.Ala297Thr
NM_001037967.3:c.778G>A	NP_001033056.1:p.Ala260Thr
NM_001037968.3:c.850G>A	NP_001033057.1:p.Ala284Thr
XM_005261995.2:c.961G>A	XP_005262052.1:p.Ala321Thr
XM_011530771.1:c.28G>A	XP_011529073.1:p.Ala10Thr
NM_000032.5:c.889G>A MANE Select	NP_000023.2:p.Ala297Thr
NM_001037967.4:c.778G>A	NP_001033056.1:p.Ala260Thr
NM_001037968.4:c.850G>A	NP_001033057.1:p.Ala284Thr