Canonical Allele Identifier: CA590104180

Gene: ALAD

Linked Data

• dbSNP Id: rs1294357444
• gnomAD v2: 9-116153934-A-C
• gnomAD v3: 9-113391654-A-C
• gnomAD v4: 9-113391654-A-C
• MyVariant Identifiers: chr9:g.116153934A>C (hg19) ; chr9:g.113391654A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391654A>C , CM000671.2:g.113391654A>C	GRCh38
NC_000009.11:g.116153934A>C , CM000671.1:g.116153934A>C	GRCh37
NC_000009.10:g.115193755A>C	NCBI36
NG_008716.1:g.14685T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.165-31T>G MANE Select	ENSP00000386284.3:n.165-31T>G
ENST00000409155.7:c.165-31T>G	ENSP00000386284.3:n.165-31T>G
ENST00000448137.5:c.192-31T>G	ENSP00000392748.1:n.192-31T>G
ENST00000464749.5:n.258-721T>G
ENST00000468504.5:n.287-31T>G
ENST00000482001.1:n.438-31T>G
ENST00000482847.5:n.438-31T>G
NM_000031.5:c.165-31T>G	NP_000022.3:n.165-31T>G
XM_005251799.1:c.252-31T>G	XP_005251856.1:n.252-31T>G
XM_011518363.1:c.291-31T>G	XP_011516665.1:n.291-31T>G
XM_011518364.1:c.192-31T>G	XP_011516666.1:n.192-31T>G
NM_001003945.2:c.252-31T>G	NP_001003945.1:n.252-31T>G
NM_001317745.1:c.141-31T>G	NP_001304674.1:n.141-31T>G
XM_011518364.2:c.192-31T>G	XP_011516666.1:n.192-31T>G
XM_024447449.1:c.252-31T>G	XP_024303217.1:n.252-31T>G
XR_002956764.1:n.665-31T>G
NM_000031.6:c.165-31T>G MANE Select	NP_000022.3:n.165-31T>G
NM_001003945.3:c.252-31T>G	NP_001003945.1:n.252-31T>G
NM_001317745.2:c.141-31T>G	NP_001304674.1:n.141-31T>G