Canonical Allele Identifier: CA374565121

Gene: ALAD

Linked Data

• dbSNP Id: rs1588084249
• MyVariant Identifiers: chr9:g.116153859T>C (hg19) ; chr9:g.113391579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391579T>C , CM000671.2:g.113391579T>C	GRCh38
NC_000009.11:g.116153859T>C , CM000671.1:g.116153859T>C	GRCh37
NC_000009.10:g.115193680T>C	NCBI36
NG_008716.1:g.14760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.209A>G MANE Select	ENSP00000386284.3:p.Glu70Gly
ENST00000409155.7:c.209A>G	ENSP00000386284.3:p.Glu70Gly
ENST00000448137.5:c.236A>G	ENSP00000392748.1:p.Glu79Gly
ENST00000464749.5:n.258-646A>G
ENST00000468504.5:n.331A>G
ENST00000482001.1:n.482A>G
ENST00000482847.5:n.482A>G
NM_000031.5:c.209A>G	NP_000022.3:p.Glu70Gly
XM_005251799.1:c.296A>G	XP_005251856.1:p.Glu99Gly
XM_011518363.1:c.335A>G	XP_011516665.1:p.Glu112Gly
XM_011518364.1:c.236A>G	XP_011516666.1:p.Glu79Gly
NM_001003945.2:c.296A>G	NP_001003945.1:p.Glu99Gly
NM_001317745.1:c.185A>G	NP_001304674.1:p.Glu62Gly
XM_011518364.2:c.236A>G	XP_011516666.1:p.Glu79Gly
XM_024447449.1:c.296A>G	XP_024303217.1:p.Glu99Gly
XR_002956764.1:n.709A>G
NM_000031.6:c.209A>G MANE Select	NP_000022.3:p.Glu70Gly
NM_001003945.3:c.296A>G	NP_001003945.1:p.Glu99Gly
NM_001317745.2:c.185A>G	NP_001304674.1:p.Glu62Gly