Canonical Allele Identifier: CA590104849

Gene: ALAD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113397143C>G , CM000671.2:g.113397143C>G	GRCh38
NC_000009.11:g.116159423C>G , CM000671.1:g.116159423C>G	GRCh37
NC_000009.10:g.115199244C>G	NCBI36
NG_008716.1:g.9196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.-75-3509G>C MANE Select	ENSP00000386284.3:n.-75-3509G>C
ENST00000409155.7:c.-75-3509G>C	ENSP00000386284.3:n.-75-3509G>C
ENST00000448137.5:c.-49+935G>C	ENSP00000392748.1:n.-49+935G>C
ENST00000452726.1:c.-146G>C	ENSP00000415737.1:n.-146G>C
ENST00000464749.5:n.74-3513G>C
ENST00000468504.5:n.48-3509G>C
ENST00000482847.5:n.33-3509G>C
ENST00000494848.1:n.74-3509G>C
NM_000031.5:c.-75-3509G>C	NP_000022.3:n.-75-3509G>C
XM_005251799.1:c.-154-3509G>C	XP_005251856.1:n.-154-3509G>C
XM_011518363.1:c.-37+935G>C	XP_011516665.1:n.-37+935G>C
XM_011518364.1:c.-146G>C	XP_011516666.1:n.-146G>C
NM_001003945.2:c.-154-3509G>C	NP_001003945.1:n.-154-3509G>C
NM_001317745.1:c.-48-3509G>C	NP_001304674.1:n.-48-3509G>C
XM_011518364.2:c.-146G>C	XP_011516666.1:n.-146G>C
XM_024447449.1:c.-252G>C	XP_024303217.1:n.-252G>C
NM_000031.6:c.-75-3509G>C MANE Select	NP_000022.3:n.-75-3509G>C
NM_001003945.3:c.-154-3509G>C	NP_001003945.1:n.-154-3509G>C
NM_001317745.2:c.-48-3509G>C	NP_001304674.1:n.-48-3509G>C