Canonical Allele Identifier: CA212990

Gene: ALAD

Linked Data

• ClinVar Variation Id: 16869
• ClinVar RCV Id: RCV000018365
• dbSNP Id: rs749066913
• ExAC: 9:116153914 G / A
• gnomAD v2: 9-116153914-G-A
• gnomAD v4: 9-113391634-G-A
• MyVariant Identifiers: chr9:g.116153914G>A (hg19) ; chr9:g.113391634G>A (hg38)
• PubMed: PMID:15303011

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391634G>A , CM000671.2:g.113391634G>A	GRCh38
NC_000009.11:g.116153914G>A , CM000671.1:g.116153914G>A	GRCh37
NC_000009.10:g.115193735G>A	NCBI36
NG_008716.1:g.14705C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.165-11C>T MANE Select	ENSP00000386284.3:n.165-11C>T
ENST00000409155.7:c.165-11C>T	ENSP00000386284.3:n.165-11C>T
ENST00000448137.5:c.192-11C>T	ENSP00000392748.1:n.192-11C>T
ENST00000464749.5:n.258-701C>T
ENST00000468504.5:n.287-11C>T
ENST00000482001.1:n.438-11C>T
ENST00000482847.5:n.438-11C>T
NM_000031.5:c.165-11C>T	NP_000022.3:n.165-11C>T
XM_005251799.1:c.252-11C>T	XP_005251856.1:n.252-11C>T
XM_011518363.1:c.291-11C>T	XP_011516665.1:n.291-11C>T
XM_011518364.1:c.192-11C>T	XP_011516666.1:n.192-11C>T
NM_001003945.2:c.252-11C>T	NP_001003945.1:n.252-11C>T
NM_001317745.1:c.141-11C>T	NP_001304674.1:n.141-11C>T
XM_011518364.2:c.192-11C>T	XP_011516666.1:n.192-11C>T
XM_024447449.1:c.252-11C>T	XP_024303217.1:n.252-11C>T
XR_002956764.1:n.665-11C>T
NM_000031.6:c.165-11C>T MANE Select	NP_000022.3:n.165-11C>T
NM_001003945.3:c.252-11C>T	NP_001003945.1:n.252-11C>T
NM_001317745.2:c.141-11C>T	NP_001304674.1:n.141-11C>T