Canonical Allele Identifier: CA374565174

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391602-T-G
• MyVariant Identifiers: chr9:g.116153882T>G (hg19) ; chr9:g.113391602T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391602T>G , CM000671.2:g.113391602T>G	GRCh38
NC_000009.11:g.116153882T>G , CM000671.1:g.116153882T>G	GRCh37
NC_000009.10:g.115193703T>G	NCBI36
NG_008716.1:g.14737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.186A>C MANE Select	ENSP00000386284.3:p.Glu62Asp
ENST00000409155.7:c.186A>C	ENSP00000386284.3:p.Glu62Asp
ENST00000448137.5:c.213A>C	ENSP00000392748.1:p.Glu71Asp
ENST00000464749.5:n.258-669A>C
ENST00000468504.5:n.308A>C
ENST00000482001.1:n.459A>C
ENST00000482847.5:n.459A>C
NM_000031.5:c.186A>C	NP_000022.3:p.Glu62Asp
XM_005251799.1:c.273A>C	XP_005251856.1:p.Glu91Asp
XM_011518363.1:c.312A>C	XP_011516665.1:p.Glu104Asp
XM_011518364.1:c.213A>C	XP_011516666.1:p.Glu71Asp
NM_001003945.2:c.273A>C	NP_001003945.1:p.Glu91Asp
NM_001317745.1:c.162A>C	NP_001304674.1:p.Glu54Asp
XM_011518364.2:c.213A>C	XP_011516666.1:p.Glu71Asp
XM_024447449.1:c.273A>C	XP_024303217.1:p.Glu91Asp
XR_002956764.1:n.686A>C
NM_000031.6:c.186A>C MANE Select	NP_000022.3:p.Glu62Asp
NM_001003945.3:c.273A>C	NP_001003945.1:p.Glu91Asp
NM_001317745.2:c.162A>C	NP_001304674.1:p.Glu54Asp