Canonical Allele Identifier: CA2579424462

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391482-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391482G>A , CM000671.2:g.113391482G>A	GRCh38
NC_000009.11:g.116153762G>A , CM000671.1:g.116153762G>A	GRCh37
NC_000009.10:g.115193583G>A	NCBI36
NG_008716.1:g.14857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.261+45C>T MANE Select	ENSP00000386284.3:n.261+45C>T
ENST00000409155.7:c.261+45C>T	ENSP00000386284.3:n.261+45C>T
ENST00000448137.5:c.288+45C>T	ENSP00000392748.1:n.288+45C>T
ENST00000464749.5:n.258-549C>T
ENST00000468504.5:n.383+45C>T
ENST00000482001.1:n.534+45C>T
ENST00000482847.5:n.534+45C>T
NM_000031.5:c.261+45C>T	NP_000022.3:n.261+45C>T
XM_005251799.1:c.348+45C>T	XP_005251856.1:n.348+45C>T
XM_011518363.1:c.387+45C>T	XP_011516665.1:n.387+45C>T
XM_011518364.1:c.288+45C>T	XP_011516666.1:n.288+45C>T
NM_001003945.2:c.348+45C>T	NP_001003945.1:n.348+45C>T
NM_001317745.1:c.237+45C>T	NP_001304674.1:n.237+45C>T
XM_011518364.2:c.288+45C>T	XP_011516666.1:n.288+45C>T
XM_024447449.1:c.348+45C>T	XP_024303217.1:n.348+45C>T
XR_002956764.1:n.761+45C>T
NM_000031.6:c.261+45C>T MANE Select	NP_000022.3:n.261+45C>T
NM_001003945.3:c.348+45C>T	NP_001003945.1:n.348+45C>T
NM_001317745.2:c.237+45C>T	NP_001304674.1:n.237+45C>T