Canonical Allele Identifier: CA5196315

Gene: ALAD

Linked Data

• dbSNP Id: rs556307080
• ExAC: 9:116151266 G / A
• gnomAD v2: 9-116151266-G-A
• gnomAD v3: 9-113388986-G-A
• gnomAD v4: 9-113388986-G-A
• MyVariant Identifiers: chr9:g.116151266G>A (hg19) ; chr9:g.113388986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388986G>A , CM000671.2:g.113388986G>A	GRCh38
NC_000009.11:g.116151266G>A , CM000671.1:g.116151266G>A	GRCh37
NC_000009.10:g.115191087G>A	NCBI36
NG_008716.1:g.17353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.922C>T MANE Select	ENSP00000386284.3:p.Arg308Cys
ENST00000409155.7:c.922C>T	ENSP00000386284.3:p.Arg308Cys
ENST00000482847.5:n.1195C>T
NM_000031.5:c.922C>T	NP_000022.3:p.Arg308Cys
XM_005251799.1:c.1009C>T	XP_005251856.1:p.Arg337Cys
XM_011518363.1:c.1048C>T	XP_011516665.1:p.Arg350Cys
XM_011518364.1:c.949C>T	XP_011516666.1:p.Arg317Cys
NM_001003945.2:c.1009C>T	NP_001003945.1:p.Arg337Cys
NM_001317745.1:c.898C>T	NP_001304674.1:p.Arg300Cys
XM_011518364.2:c.949C>T	XP_011516666.1:p.Arg317Cys
XM_024447449.1:c.1009C>T	XP_024303217.1:p.Arg337Cys
NM_000031.6:c.922C>T MANE Select	NP_000022.3:p.Arg308Cys
NM_001003945.3:c.1009C>T	NP_001003945.1:p.Arg337Cys
NM_001317745.2:c.898C>T	NP_001304674.1:p.Arg300Cys