Canonical Allele Identifier: CA374564970

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153821T>A (hg19) ; chr9:g.113391541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391541T>A , CM000671.2:g.113391541T>A	GRCh38
NC_000009.11:g.116153821T>A , CM000671.1:g.116153821T>A	GRCh37
NC_000009.10:g.115193642T>A	NCBI36
NG_008716.1:g.14798A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.247A>T MANE Select	ENSP00000386284.3:p.Ser83Cys
ENST00000409155.7:c.247A>T	ENSP00000386284.3:p.Ser83Cys
ENST00000448137.5:c.274A>T	ENSP00000392748.1:p.Ser92Cys
ENST00000464749.5:n.258-608A>T
ENST00000468504.5:n.369A>T
ENST00000482001.1:n.520A>T
ENST00000482847.5:n.520A>T
NM_000031.5:c.247A>T	NP_000022.3:p.Ser83Cys
XM_005251799.1:c.334A>T	XP_005251856.1:p.Ser112Cys
XM_011518363.1:c.373A>T	XP_011516665.1:p.Ser125Cys
XM_011518364.1:c.274A>T	XP_011516666.1:p.Ser92Cys
NM_001003945.2:c.334A>T	NP_001003945.1:p.Ser112Cys
NM_001317745.1:c.223A>T	NP_001304674.1:p.Ser75Cys
XM_011518364.2:c.274A>T	XP_011516666.1:p.Ser92Cys
XM_024447449.1:c.334A>T	XP_024303217.1:p.Ser112Cys
XR_002956764.1:n.747A>T
NM_000031.6:c.247A>T MANE Select	NP_000022.3:p.Ser83Cys
NM_001003945.3:c.334A>T	NP_001003945.1:p.Ser112Cys
NM_001317745.2:c.223A>T	NP_001304674.1:p.Ser75Cys