Canonical Allele Identifier: CA328973919

Gene: ALAS2

Linked Data

• dbSNP Id: rs186030106
• gnomAD v2: X-55047425-T-C
• gnomAD v3: X-55020992-T-C
• gnomAD v4: X-55020992-T-C
• MyVariant Identifiers: chrX:g.55047425T>C (hg19) ; chrX:g.55047425_55047435delinsCCCATGTGTGG (hg19) ; chrX:g.55020992T>C (hg38) ; chrX:g.55020992_55021002delinsCCCATGTGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020992T>C , CM000685.2:g.55020992T>C	GRCh38
NC_000023.10:g.55047425T>C , CM000685.1:g.55047425T>C	GRCh37
NC_000023.9:g.55064150T>C	NCBI36
NG_008983.1:g.15073A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+60A>G	ENSP00000407204.2:n.422+60A>G
ENST00000477869.6:c.311+60A>G	ENSP00000496725.1:n.311+60A>G
ENST00000493869.2:c.305-488A>G	ENSP00000495713.1:n.305-488A>G
ENST00000650242.1:c.638+60A>G MANE Select	ENSP00000497236.1:n.638+60A>G
ENST00000330807.9:c.638+60A>G	ENSP00000332369.5:n.638+60A>G
ENST00000335854.8:c.527+60A>G	ENSP00000337131.4:n.527+60A>G
ENST00000396198.7:c.599+60A>G	ENSP00000379501.3:n.599+60A>G
ENST00000455688.1:c.493+60A>G
ENST00000463868.5:n.356-488A>G
ENST00000477869.5:n.382+60A>G
ENST00000493869.1:n.578+60A>G
NM_000032.4:c.638+60A>G	NP_000023.2:n.638+60A>G
NM_001037967.3:c.527+60A>G	NP_001033056.1:n.527+60A>G
NM_001037968.3:c.599+60A>G	NP_001033057.1:n.599+60A>G
XM_005261995.2:c.710+60A>G	XP_005262052.1:n.710+60A>G
XM_011530771.1:c.-223-488A>G	XP_011529073.1:n.-223-488A>G
NM_000032.5:c.638+60A>G MANE Select	NP_000023.2:n.638+60A>G
NM_001037967.4:c.527+60A>G	NP_001033056.1:n.527+60A>G
NM_001037968.4:c.599+60A>G	NP_001033057.1:n.599+60A>G