Canonical Allele Identifier: CA374565187

Gene: ALAD

Linked Data

• dbSNP Id: rs1347092200
• gnomAD v2: 9-116153890-G-A
• gnomAD v3: 9-113391610-G-A
• gnomAD v4: 9-113391610-G-A
• MyVariant Identifiers: chr9:g.116153890G>A (hg19) ; chr9:g.113391610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391610G>A , CM000671.2:g.113391610G>A	GRCh38
NC_000009.11:g.116153890G>A , CM000671.1:g.116153890G>A	GRCh37
NC_000009.10:g.115193711G>A	NCBI36
NG_008716.1:g.14729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.178C>T MANE Select	ENSP00000386284.3:p.Arg60Trp
ENST00000409155.7:c.178C>T	ENSP00000386284.3:p.Arg60Trp
ENST00000448137.5:c.205C>T	ENSP00000392748.1:p.Arg69Trp
ENST00000464749.5:n.258-677C>T
ENST00000468504.5:n.300C>T
ENST00000482001.1:n.451C>T
ENST00000482847.5:n.451C>T
NM_000031.5:c.178C>T	NP_000022.3:p.Arg60Trp
XM_005251799.1:c.265C>T	XP_005251856.1:p.Arg89Trp
XM_011518363.1:c.304C>T	XP_011516665.1:p.Arg102Trp
XM_011518364.1:c.205C>T	XP_011516666.1:p.Arg69Trp
NM_001003945.2:c.265C>T	NP_001003945.1:p.Arg89Trp
NM_001317745.1:c.154C>T	NP_001304674.1:p.Arg52Trp
XM_011518364.2:c.205C>T	XP_011516666.1:p.Arg69Trp
XM_024447449.1:c.265C>T	XP_024303217.1:p.Arg89Trp
XR_002956764.1:n.678C>T
NM_000031.6:c.178C>T MANE Select	NP_000022.3:p.Arg60Trp
NM_001003945.3:c.265C>T	NP_001003945.1:p.Arg89Trp
NM_001317745.2:c.154C>T	NP_001304674.1:p.Arg52Trp