Canonical Allele Identifier: CA413290366

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55035687A>G (hg19) ; chrX:g.55009254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009254A>G , CM000685.2:g.55009254A>G	GRCh38
NC_000023.10:g.55035687A>G , CM000685.1:g.55035687A>G	GRCh37
NC_000023.9:g.55052412A>G	NCBI36
NG_008983.1:g.26811T>C
NG_012568.1:g.13908A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1690T>C MANE Select	ENSP00000497236.1:p.Phe564Leu
ENST00000330807.9:c.1690T>C	ENSP00000332369.5:p.Phe564Leu
ENST00000335854.8:c.1579T>C	ENSP00000337131.4:p.Phe527Leu
ENST00000396198.7:c.1651T>C	ENSP00000379501.3:p.Phe551Leu
ENST00000498636.1:n.818T>C
NM_000032.4:c.1690T>C	NP_000023.2:p.Phe564Leu
NM_001037967.3:c.1579T>C	NP_001033056.1:p.Phe527Leu
NM_001037968.3:c.1651T>C	NP_001033057.1:p.Phe551Leu
XM_005261995.2:c.1762T>C	XP_005262052.1:p.Phe588Leu
XM_011530771.1:c.829T>C	XP_011529073.1:p.Phe277Leu
NM_000032.5:c.1690T>C MANE Select	NP_000023.2:p.Phe564Leu
NM_001037967.4:c.1579T>C	NP_001033056.1:p.Phe527Leu
NM_001037968.4:c.1651T>C	NP_001033057.1:p.Phe551Leu