Canonical Allele Identifier: CA413290313

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55035676C>T (hg19) ; chrX:g.55009243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009243C>T , CM000685.2:g.55009243C>T	GRCh38
NC_000023.10:g.55035676C>T , CM000685.1:g.55035676C>T	GRCh37
NC_000023.9:g.55052401C>T	NCBI36
NG_008983.1:g.26822G>A
NG_012568.1:g.13897C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1701G>A MANE Select	ENSP00000497236.1:p.Met567Ile
ENST00000330807.9:c.1701G>A	ENSP00000332369.5:p.Met567Ile
ENST00000335854.8:c.1590G>A	ENSP00000337131.4:p.Met530Ile
ENST00000396198.7:c.1662G>A	ENSP00000379501.3:p.Met554Ile
ENST00000498636.1:n.829G>A
NM_000032.4:c.1701G>A	NP_000023.2:p.Met567Ile
NM_001037967.3:c.1590G>A	NP_001033056.1:p.Met530Ile
NM_001037968.3:c.1662G>A	NP_001033057.1:p.Met554Ile
XM_005261995.2:c.1773G>A	XP_005262052.1:p.Met591Ile
XM_011530771.1:c.840G>A	XP_011529073.1:p.Met280Ile
NM_000032.5:c.1701G>A MANE Select	NP_000023.2:p.Met567Ile
NM_001037967.4:c.1590G>A	NP_001033056.1:p.Met530Ile
NM_001037968.4:c.1662G>A	NP_001033057.1:p.Met554Ile