Canonical Allele Identifier: CA641383274

Gene: ALAS2

Linked Data

• dbSNP Id: rs1202094461
• gnomAD v2: X-55047432-G-T
• gnomAD v3: X-55020999-G-T
• gnomAD v4: X-55020999-G-T
• MyVariant Identifiers: chrX:g.55047432G>T (hg19) ; chrX:g.55020999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020999G>T , CM000685.2:g.55020999G>T	GRCh38
NC_000023.10:g.55047432G>T , CM000685.1:g.55047432G>T	GRCh37
NC_000023.9:g.55064157G>T	NCBI36
NG_008983.1:g.15066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455688.2:c.422+53C>A	ENSP00000407204.2:n.422+53C>A
ENST00000477869.6:c.311+53C>A	ENSP00000496725.1:n.311+53C>A
ENST00000493869.2:c.305-495C>A	ENSP00000495713.1:n.305-495C>A
ENST00000650242.1:c.638+53C>A MANE Select	ENSP00000497236.1:n.638+53C>A
ENST00000330807.9:c.638+53C>A	ENSP00000332369.5:n.638+53C>A
ENST00000335854.8:c.527+53C>A	ENSP00000337131.4:n.527+53C>A
ENST00000396198.7:c.599+53C>A	ENSP00000379501.3:n.599+53C>A
ENST00000455688.1:c.493+53C>A
ENST00000463868.5:n.356-495C>A
ENST00000477869.5:n.382+53C>A
ENST00000493869.1:n.578+53C>A
NM_000032.4:c.638+53C>A	NP_000023.2:n.638+53C>A
NM_001037967.3:c.527+53C>A	NP_001033056.1:n.527+53C>A
NM_001037968.3:c.599+53C>A	NP_001033057.1:n.599+53C>A
XM_005261995.2:c.710+53C>A	XP_005262052.1:n.710+53C>A
XM_011530771.1:c.-223-495C>A	XP_011529073.1:n.-223-495C>A
NM_000032.5:c.638+53C>A MANE Select	NP_000023.2:n.638+53C>A
NM_001037967.4:c.527+53C>A	NP_001033056.1:n.527+53C>A
NM_001037968.4:c.599+53C>A	NP_001033057.1:n.599+53C>A