Canonical Allele Identifier: CA374562949

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151282C>A (hg19) ; chr9:g.113389002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389002C>A , CM000671.2:g.113389002C>A	GRCh38
NC_000009.11:g.116151282C>A , CM000671.1:g.116151282C>A	GRCh37
NC_000009.10:g.115191103C>A	NCBI36
NG_008716.1:g.17337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.906G>T MANE Select	ENSP00000386284.3:p.Glu302Asp
ENST00000409155.7:c.906G>T	ENSP00000386284.3:p.Glu302Asp
ENST00000482847.5:n.1179G>T
NM_000031.5:c.906G>T	NP_000022.3:p.Glu302Asp
XM_005251799.1:c.993G>T	XP_005251856.1:p.Glu331Asp
XM_011518363.1:c.1032G>T	XP_011516665.1:p.Glu344Asp
XM_011518364.1:c.933G>T	XP_011516666.1:p.Glu311Asp
NM_001003945.2:c.993G>T	NP_001003945.1:p.Glu331Asp
NM_001317745.1:c.882G>T	NP_001304674.1:p.Glu294Asp
XM_011518364.2:c.933G>T	XP_011516666.1:p.Glu311Asp
XM_024447449.1:c.993G>T	XP_024303217.1:p.Glu331Asp
NM_000031.6:c.906G>T MANE Select	NP_000022.3:p.Glu302Asp
NM_001003945.3:c.993G>T	NP_001003945.1:p.Glu331Asp
NM_001317745.2:c.882G>T	NP_001304674.1:p.Glu294Asp