Canonical Allele Identifier: CA1873365530

Gene: ALAD

Linked Data

• dbSNP Id: rs1827482636
• gnomAD v4: 9-113388921-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388921G>A , CM000671.2:g.113388921G>A	GRCh38
NC_000009.11:g.116151201G>A , CM000671.1:g.116151201G>A	GRCh37
NC_000009.10:g.115191022G>A	NCBI36
NG_008716.1:g.17418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.931+56C>T MANE Select	ENSP00000386284.3:n.931+56C>T
ENST00000409155.7:c.931+56C>T	ENSP00000386284.3:n.931+56C>T
ENST00000482847.5:n.1204+56C>T
NM_000031.5:c.931+56C>T	NP_000022.3:n.931+56C>T
XM_005251799.1:c.1018+56C>T	XP_005251856.1:n.1018+56C>T
XM_011518363.1:c.1057+56C>T	XP_011516665.1:n.1057+56C>T
XM_011518364.1:c.958+56C>T	XP_011516666.1:n.958+56C>T
NM_001003945.2:c.1018+56C>T	NP_001003945.1:n.1018+56C>T
NM_001317745.1:c.907+56C>T	NP_001304674.1:n.907+56C>T
XM_011518364.2:c.958+56C>T	XP_011516666.1:n.958+56C>T
XM_024447449.1:c.1018+56C>T	XP_024303217.1:n.1018+56C>T
NM_000031.6:c.931+56C>T MANE Select	NP_000022.3:n.931+56C>T
NM_001003945.3:c.1018+56C>T	NP_001003945.1:n.1018+56C>T
NM_001317745.2:c.907+56C>T	NP_001304674.1:n.907+56C>T