Canonical Allele Identifier: CA5196341

Gene: ALAD

Linked Data

• dbSNP Id: rs780968225
• ExAC: 9:116151379 T / A
• gnomAD v2: 9-116151379-T-A
• gnomAD v3: 9-113389099-T-A
• gnomAD v4: 9-113389099-T-A
• MyVariant Identifiers: chr9:g.116151379T>A (hg19) ; chr9:g.113389099T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389099T>A , CM000671.2:g.113389099T>A	GRCh38
NC_000009.11:g.116151379T>A , CM000671.1:g.116151379T>A	GRCh37
NC_000009.10:g.115191200T>A	NCBI36
NG_008716.1:g.17240A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.809A>T MANE Select	ENSP00000386284.3:p.Asp270Val
ENST00000409155.7:c.809A>T	ENSP00000386284.3:p.Asp270Val
ENST00000482847.5:n.1082A>T
NM_000031.5:c.809A>T	NP_000022.3:p.Asp270Val
XM_005251799.1:c.896A>T	XP_005251856.1:p.Asp299Val
XM_011518363.1:c.935A>T	XP_011516665.1:p.Asp312Val
XM_011518364.1:c.836A>T	XP_011516666.1:p.Asp279Val
NM_001003945.2:c.896A>T	NP_001003945.1:p.Asp299Val
NM_001317745.1:c.785A>T	NP_001304674.1:p.Asp262Val
XM_011518364.2:c.836A>T	XP_011516666.1:p.Asp279Val
XM_024447449.1:c.896A>T	XP_024303217.1:p.Asp299Val
NM_000031.6:c.809A>T MANE Select	NP_000022.3:p.Asp270Val
NM_001003945.3:c.896A>T	NP_001003945.1:p.Asp299Val
NM_001317745.2:c.785A>T	NP_001304674.1:p.Asp262Val