Canonical Allele Identifier: CA516580839

Gene: ALAS2

Linked Data

• dbSNP Id: rs149747514
• gnomAD v2: X-55035682-C-T
• gnomAD v4: X-55009249-C-T
• MyVariant Identifiers: chrX:g.55035682C>T (hg19) ; chrX:g.55009249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009249C>T , CM000685.2:g.55009249C>T	GRCh38
NC_000023.10:g.55035682C>T , CM000685.1:g.55035682C>T	GRCh37
NC_000023.9:g.55052407C>T	NCBI36
NG_008983.1:g.26816G>A
NG_012568.1:g.13903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1695G>A MANE Select	ENSP00000497236.1:p.Glu565=
ENST00000330807.9:c.1695G>A	ENSP00000332369.5:p.Glu565=
ENST00000335854.8:c.1584G>A	ENSP00000337131.4:p.Glu528=
ENST00000396198.7:c.1656G>A	ENSP00000379501.3:p.Glu552=
ENST00000498636.1:n.823G>A
NM_000032.4:c.1695G>A	NP_000023.2:p.Glu565=
NM_001037967.3:c.1584G>A	NP_001033056.1:p.Glu528=
NM_001037968.3:c.1656G>A	NP_001033057.1:p.Glu552=
XM_005261995.2:c.1767G>A	XP_005262052.1:p.Glu589=
XM_011530771.1:c.834G>A	XP_011529073.1:p.Glu278=
NM_000032.5:c.1695G>A MANE Select	NP_000023.2:p.Glu565=
NM_001037967.4:c.1584G>A	NP_001033056.1:p.Glu528=
NM_001037968.4:c.1656G>A	NP_001033057.1:p.Glu552=