Canonical Allele Identifier: CA374565175

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153883T>A (hg19) ; chr9:g.113391603T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391603T>A , CM000671.2:g.113391603T>A	GRCh38
NC_000009.11:g.116153883T>A , CM000671.1:g.116153883T>A	GRCh37
NC_000009.10:g.115193704T>A	NCBI36
NG_008716.1:g.14736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.185A>T MANE Select	ENSP00000386284.3:p.Glu62Val
ENST00000409155.7:c.185A>T	ENSP00000386284.3:p.Glu62Val
ENST00000448137.5:c.212A>T	ENSP00000392748.1:p.Glu71Val
ENST00000464749.5:n.258-670A>T
ENST00000468504.5:n.307A>T
ENST00000482001.1:n.458A>T
ENST00000482847.5:n.458A>T
NM_000031.5:c.185A>T	NP_000022.3:p.Glu62Val
XM_005251799.1:c.272A>T	XP_005251856.1:p.Glu91Val
XM_011518363.1:c.311A>T	XP_011516665.1:p.Glu104Val
XM_011518364.1:c.212A>T	XP_011516666.1:p.Glu71Val
NM_001003945.2:c.272A>T	NP_001003945.1:p.Glu91Val
NM_001317745.1:c.161A>T	NP_001304674.1:p.Glu54Val
XM_011518364.2:c.212A>T	XP_011516666.1:p.Glu71Val
XM_024447449.1:c.272A>T	XP_024303217.1:p.Glu91Val
XR_002956764.1:n.685A>T
NM_000031.6:c.185A>T MANE Select	NP_000022.3:p.Glu62Val
NM_001003945.3:c.272A>T	NP_001003945.1:p.Glu91Val
NM_001317745.2:c.161A>T	NP_001304674.1:p.Glu54Val