Canonical Allele Identifier: CA13018483

Gene: ALAD

Linked Data

• ClinVar Variation Id: 1242974
• ClinVar RCV Id: RCV001643873
• dbSNP Id: rs8177800
• gnomAD v2: 9-116154099-C-T
• gnomAD v3: 9-113391819-C-T
• gnomAD v4: 9-113391819-C-T
• MyVariant Identifiers: chr9:g.116154099C>T (hg19) ; chr9:g.113391819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391819C>T , CM000671.2:g.113391819C>T	GRCh38
NC_000009.11:g.116154099C>T , CM000671.1:g.116154099C>T	GRCh37
NC_000009.10:g.115193920C>T	NCBI36
NG_008716.1:g.14520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.165-196G>A MANE Select	ENSP00000386284.3:n.165-196G>A
ENST00000409155.7:c.165-196G>A	ENSP00000386284.3:n.165-196G>A
ENST00000448137.5:c.192-196G>A	ENSP00000392748.1:n.192-196G>A
ENST00000464749.5:n.258-886G>A
ENST00000468504.5:n.287-196G>A
ENST00000482001.1:n.438-196G>A
ENST00000482847.5:n.438-196G>A
NM_000031.5:c.165-196G>A	NP_000022.3:n.165-196G>A
XM_005251799.1:c.252-196G>A	XP_005251856.1:n.252-196G>A
XM_011518363.1:c.291-196G>A	XP_011516665.1:n.291-196G>A
XM_011518364.1:c.192-196G>A	XP_011516666.1:n.192-196G>A
NM_001003945.2:c.252-196G>A	NP_001003945.1:n.252-196G>A
NM_001317745.1:c.141-196G>A	NP_001304674.1:n.141-196G>A
XM_011518364.2:c.192-196G>A	XP_011516666.1:n.192-196G>A
XM_024447449.1:c.252-196G>A	XP_024303217.1:n.252-196G>A
XR_002956764.1:n.665-196G>A
NM_000031.6:c.165-196G>A MANE Select	NP_000022.3:n.165-196G>A
NM_001003945.3:c.252-196G>A	NP_001003945.1:n.252-196G>A
NM_001317745.2:c.141-196G>A	NP_001304674.1:n.141-196G>A