Canonical Allele Identifier: CA413290335

Gene: ALAS2

Linked Data

• ClinVar Variation Id: 2607684
• ClinVar RCV Id: RCV003357591
• dbSNP Id: rs1241366449
• MyVariant Identifiers: chrX:g.55035681G>A (hg19) ; chrX:g.55009248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009248G>A , CM000685.2:g.55009248G>A	GRCh38
NC_000023.10:g.55035681G>A , CM000685.1:g.55035681G>A	GRCh37
NC_000023.9:g.55052406G>A	NCBI36
NG_008983.1:g.26817C>T
NG_012568.1:g.13902G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1696C>T MANE Select	ENSP00000497236.1:p.Leu566Phe
ENST00000330807.9:c.1696C>T	ENSP00000332369.5:p.Leu566Phe
ENST00000335854.8:c.1585C>T	ENSP00000337131.4:p.Leu529Phe
ENST00000396198.7:c.1657C>T	ENSP00000379501.3:p.Leu553Phe
ENST00000498636.1:n.824C>T
NM_000032.4:c.1696C>T	NP_000023.2:p.Leu566Phe
NM_001037967.3:c.1585C>T	NP_001033056.1:p.Leu529Phe
NM_001037968.3:c.1657C>T	NP_001033057.1:p.Leu553Phe
XM_005261995.2:c.1768C>T	XP_005262052.1:p.Leu590Phe
XM_011530771.1:c.835C>T	XP_011529073.1:p.Leu279Phe
NM_000032.5:c.1696C>T MANE Select	NP_000023.2:p.Leu566Phe
NM_001037967.4:c.1585C>T	NP_001033056.1:p.Leu529Phe
NM_001037968.4:c.1657C>T	NP_001033057.1:p.Leu553Phe