Canonical Allele Identifier: CA374565020

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153833A>C (hg19) ; chr9:g.113391553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391553A>C , CM000671.2:g.113391553A>C	GRCh38
NC_000009.11:g.116153833A>C , CM000671.1:g.116153833A>C	GRCh37
NC_000009.10:g.115193654A>C	NCBI36
NG_008716.1:g.14786T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.235T>G MANE Select	ENSP00000386284.3:p.Phe79Val
ENST00000409155.7:c.235T>G	ENSP00000386284.3:p.Phe79Val
ENST00000448137.5:c.262T>G	ENSP00000392748.1:p.Phe88Val
ENST00000464749.5:n.258-620T>G
ENST00000468504.5:n.357T>G
ENST00000482001.1:n.508T>G
ENST00000482847.5:n.508T>G
NM_000031.5:c.235T>G	NP_000022.3:p.Phe79Val
XM_005251799.1:c.322T>G	XP_005251856.1:p.Phe108Val
XM_011518363.1:c.361T>G	XP_011516665.1:p.Phe121Val
XM_011518364.1:c.262T>G	XP_011516666.1:p.Phe88Val
NM_001003945.2:c.322T>G	NP_001003945.1:p.Phe108Val
NM_001317745.1:c.211T>G	NP_001304674.1:p.Phe71Val
XM_011518364.2:c.262T>G	XP_011516666.1:p.Phe88Val
XM_024447449.1:c.322T>G	XP_024303217.1:p.Phe108Val
XR_002956764.1:n.735T>G
NM_000031.6:c.235T>G MANE Select	NP_000022.3:p.Phe79Val
NM_001003945.3:c.322T>G	NP_001003945.1:p.Phe108Val
NM_001317745.2:c.211T>G	NP_001304674.1:p.Phe71Val