Canonical Allele Identifier: CA198547924

Gene: ALAD

Linked Data

• dbSNP Id: rs892583430
• gnomAD v2: 9-116153719-A-G
• gnomAD v3: 9-113391439-A-G
• gnomAD v4: 9-113391439-A-G
• MyVariant Identifiers: chr9:g.116153719A>G (hg19) ; chr9:g.113391439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391439A>G , CM000671.2:g.113391439A>G	GRCh38
NC_000009.11:g.116153719A>G , CM000671.1:g.116153719A>G	GRCh37
NC_000009.10:g.115193540A>G	NCBI36
NG_008716.1:g.14900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.261+88T>C MANE Select	ENSP00000386284.3:n.261+88T>C
ENST00000409155.7:c.261+88T>C	ENSP00000386284.3:n.261+88T>C
ENST00000448137.5:c.288+88T>C	ENSP00000392748.1:n.288+88T>C
ENST00000464749.5:n.258-506T>C
ENST00000468504.5:n.383+88T>C
ENST00000482001.1:n.534+88T>C
ENST00000482847.5:n.534+88T>C
NM_000031.5:c.261+88T>C	NP_000022.3:n.261+88T>C
XM_005251799.1:c.348+88T>C	XP_005251856.1:n.348+88T>C
XM_011518363.1:c.387+88T>C	XP_011516665.1:n.387+88T>C
XM_011518364.1:c.288+88T>C	XP_011516666.1:n.288+88T>C
NM_001003945.2:c.348+88T>C	NP_001003945.1:n.348+88T>C
NM_001317745.1:c.237+88T>C	NP_001304674.1:n.237+88T>C
XM_011518364.2:c.288+88T>C	XP_011516666.1:n.288+88T>C
XM_024447449.1:c.348+88T>C	XP_024303217.1:n.348+88T>C
XR_002956764.1:n.761+88T>C
NM_000031.6:c.261+88T>C MANE Select	NP_000022.3:n.261+88T>C
NM_001003945.3:c.348+88T>C	NP_001003945.1:n.348+88T>C
NM_001317745.2:c.237+88T>C	NP_001304674.1:n.237+88T>C