Canonical Allele Identifier: CA374562915

Gene: ALAD

Linked Data

• dbSNP Id: rs1564368258
• gnomAD v2: 9-116151265-C-T
• gnomAD v3: 9-113388985-C-T
• gnomAD v4: 9-113388985-C-T
• MyVariant Identifiers: chr9:g.116151265C>T (hg19) ; chr9:g.116151265_116151266delinsTG (hg19) ; chr9:g.113388985C>T (hg38) ; chr9:g.113388985_113388986delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388985C>T , CM000671.2:g.113388985C>T	GRCh38
NC_000009.11:g.116151265C>T , CM000671.1:g.116151265C>T	GRCh37
NC_000009.10:g.115191086C>T	NCBI36
NG_008716.1:g.17354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.923G>A MANE Select	ENSP00000386284.3:p.Arg308His
ENST00000409155.7:c.923G>A	ENSP00000386284.3:p.Arg308His
ENST00000482847.5:n.1196G>A
NM_000031.5:c.923G>A	NP_000022.3:p.Arg308His
XM_005251799.1:c.1010G>A	XP_005251856.1:p.Arg337His
XM_011518363.1:c.1049G>A	XP_011516665.1:p.Arg350His
XM_011518364.1:c.950G>A	XP_011516666.1:p.Arg317His
NM_001003945.2:c.1010G>A	NP_001003945.1:p.Arg337His
NM_001317745.1:c.899G>A	NP_001304674.1:p.Arg300His
XM_011518364.2:c.950G>A	XP_011516666.1:p.Arg317His
XM_024447449.1:c.1010G>A	XP_024303217.1:p.Arg337His
NM_000031.6:c.923G>A MANE Select	NP_000022.3:p.Arg308His
NM_001003945.3:c.1010G>A	NP_001003945.1:p.Arg337His
NM_001317745.2:c.899G>A	NP_001304674.1:p.Arg300His