Canonical Allele Identifier: CA5196327

Gene: ALAD

Linked Data

• ClinVar Variation Id: 1033602
• ClinVar RCV Id: RCV001336064 ; RCV002546758 ; RCV002546759
• dbSNP Id: rs200781693
• ExAC: 9:116151314 C / T
• gnomAD v2: 9-116151314-C-T
• gnomAD v3: 9-113389034-C-T
• gnomAD v4: 9-113389034-C-T
• MyVariant Identifiers: chr9:g.116151314C>T (hg19) ; chr9:g.113389034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389034C>T , CM000671.2:g.113389034C>T	GRCh38
NC_000009.11:g.116151314C>T , CM000671.1:g.116151314C>T	GRCh37
NC_000009.10:g.115191135C>T	NCBI36
NG_008716.1:g.17305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.874G>A MANE Select	ENSP00000386284.3:p.Gly292Arg
ENST00000409155.7:c.874G>A	ENSP00000386284.3:p.Gly292Arg
ENST00000482847.5:n.1147G>A
NM_000031.5:c.874G>A	NP_000022.3:p.Gly292Arg
XM_005251799.1:c.961G>A	XP_005251856.1:p.Gly321Arg
XM_011518363.1:c.1000G>A	XP_011516665.1:p.Gly334Arg
XM_011518364.1:c.901G>A	XP_011516666.1:p.Gly301Arg
NM_001003945.2:c.961G>A	NP_001003945.1:p.Gly321Arg
NM_001317745.1:c.850G>A	NP_001304674.1:p.Gly284Arg
XM_011518364.2:c.901G>A	XP_011516666.1:p.Gly301Arg
XM_024447449.1:c.961G>A	XP_024303217.1:p.Gly321Arg
NM_000031.6:c.874G>A MANE Select	NP_000022.3:p.Gly292Arg
NM_001003945.3:c.961G>A	NP_001003945.1:p.Gly321Arg
NM_001317745.2:c.850G>A	NP_001304674.1:p.Gly284Arg