Canonical Allele Identifier: CA413290348

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55035683T>G (hg19) ; chrX:g.55009250T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009250T>G , CM000685.2:g.55009250T>G	GRCh38
NC_000023.10:g.55035683T>G , CM000685.1:g.55035683T>G	GRCh37
NC_000023.9:g.55052408T>G	NCBI36
NG_008983.1:g.26815A>C
NG_012568.1:g.13904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1694A>C MANE Select	ENSP00000497236.1:p.Glu565Ala
ENST00000330807.9:c.1694A>C	ENSP00000332369.5:p.Glu565Ala
ENST00000335854.8:c.1583A>C	ENSP00000337131.4:p.Glu528Ala
ENST00000396198.7:c.1655A>C	ENSP00000379501.3:p.Glu552Ala
ENST00000498636.1:n.822A>C
NM_000032.4:c.1694A>C	NP_000023.2:p.Glu565Ala
NM_001037967.3:c.1583A>C	NP_001033056.1:p.Glu528Ala
NM_001037968.3:c.1655A>C	NP_001033057.1:p.Glu552Ala
XM_005261995.2:c.1766A>C	XP_005262052.1:p.Glu589Ala
XM_011530771.1:c.833A>C	XP_011529073.1:p.Glu278Ala
NM_000032.5:c.1694A>C MANE Select	NP_000023.2:p.Glu565Ala
NM_001037967.4:c.1583A>C	NP_001033056.1:p.Glu528Ala
NM_001037968.4:c.1655A>C	NP_001033057.1:p.Glu552Ala