Canonical Allele Identifier: CA413293446

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042052T>A (hg19) ; chrX:g.55015619T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015619T>A , CM000685.2:g.55015619T>A	GRCh38
NC_000023.10:g.55042052T>A , CM000685.1:g.55042052T>A	GRCh37
NC_000023.9:g.55058777T>A	NCBI36
NG_008983.1:g.20446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1127A>T MANE Select	ENSP00000497236.1:p.Asp376Val
ENST00000330807.9:c.1127A>T	ENSP00000332369.5:p.Asp376Val
ENST00000335854.8:c.1016A>T	ENSP00000337131.4:p.Asp339Val
ENST00000396198.7:c.1088A>T	ENSP00000379501.3:p.Asp363Val
ENST00000498636.1:n.418A>T
NM_000032.4:c.1127A>T	NP_000023.2:p.Asp376Val
NM_001037967.3:c.1016A>T	NP_001033056.1:p.Asp339Val
NM_001037968.3:c.1088A>T	NP_001033057.1:p.Asp363Val
XM_005261995.2:c.1199A>T	XP_005262052.1:p.Asp400Val
XM_011530771.1:c.266A>T	XP_011529073.1:p.Asp89Val
NM_000032.5:c.1127A>T MANE Select	NP_000023.2:p.Asp376Val
NM_001037967.4:c.1016A>T	NP_001033056.1:p.Asp339Val
NM_001037968.4:c.1088A>T	NP_001033057.1:p.Asp363Val