Canonical Allele Identifier: CA5196565

Gene: ALAD

Linked Data

• ClinVar Variation Id: 2201581
• ClinVar RCV Id: RCV002629732
• dbSNP Id: rs149572240
• ExAC: 9:116153817 C / T
• gnomAD v2: 9-116153817-C-T
• gnomAD v3: 9-113391537-C-T
• gnomAD v4: 9-113391537-C-T
• MyVariant Identifiers: chr9:g.116153817C>T (hg19) ; chr9:g.113391537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391537C>T , CM000671.2:g.113391537C>T	GRCh38
NC_000009.11:g.116153817C>T , CM000671.1:g.116153817C>T	GRCh37
NC_000009.10:g.115193638C>T	NCBI36
NG_008716.1:g.14802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.251G>A MANE Select	ENSP00000386284.3:p.Arg84Lys
ENST00000409155.7:c.251G>A	ENSP00000386284.3:p.Arg84Lys
ENST00000448137.5:c.278G>A	ENSP00000392748.1:p.Arg93Lys
ENST00000464749.5:n.258-604G>A
ENST00000468504.5:n.373G>A
ENST00000482001.1:n.524G>A
ENST00000482847.5:n.524G>A
NM_000031.5:c.251G>A	NP_000022.3:p.Arg84Lys
XM_005251799.1:c.338G>A	XP_005251856.1:p.Arg113Lys
XM_011518363.1:c.377G>A	XP_011516665.1:p.Arg126Lys
XM_011518364.1:c.278G>A	XP_011516666.1:p.Arg93Lys
NM_001003945.2:c.338G>A	NP_001003945.1:p.Arg113Lys
NM_001317745.1:c.227G>A	NP_001304674.1:p.Arg76Lys
XM_011518364.2:c.278G>A	XP_011516666.1:p.Arg93Lys
XM_024447449.1:c.338G>A	XP_024303217.1:p.Arg113Lys
XR_002956764.1:n.751G>A
NM_000031.6:c.251G>A MANE Select	NP_000022.3:p.Arg84Lys
NM_001003945.3:c.338G>A	NP_001003945.1:p.Arg113Lys
NM_001317745.2:c.227G>A	NP_001304674.1:p.Arg76Lys