Canonical Allele Identifier: CA5196320

Gene: ALAD

Linked Data

• dbSNP Id: rs745845598
• ExAC: 9:116151290 C / T
• gnomAD v2: 9-116151290-C-T
• gnomAD v4: 9-113389010-C-T
• MyVariant Identifiers: chr9:g.116151290C>T (hg19) ; chr9:g.113389010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389010C>T , CM000671.2:g.113389010C>T	GRCh38
NC_000009.11:g.116151290C>T , CM000671.1:g.116151290C>T	GRCh37
NC_000009.10:g.115191111C>T	NCBI36
NG_008716.1:g.17329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.898G>A MANE Select	ENSP00000386284.3:p.Val300Ile
ENST00000409155.7:c.898G>A	ENSP00000386284.3:p.Val300Ile
ENST00000482847.5:n.1171G>A
NM_000031.5:c.898G>A	NP_000022.3:p.Val300Ile
XM_005251799.1:c.985G>A	XP_005251856.1:p.Val329Ile
XM_011518363.1:c.1024G>A	XP_011516665.1:p.Val342Ile
XM_011518364.1:c.925G>A	XP_011516666.1:p.Val309Ile
NM_001003945.2:c.985G>A	NP_001003945.1:p.Val329Ile
NM_001317745.1:c.874G>A	NP_001304674.1:p.Val292Ile
XM_011518364.2:c.925G>A	XP_011516666.1:p.Val309Ile
XM_024447449.1:c.985G>A	XP_024303217.1:p.Val329Ile
NM_000031.6:c.898G>A MANE Select	NP_000022.3:p.Val300Ile
NM_001003945.3:c.985G>A	NP_001003945.1:p.Val329Ile
NM_001317745.2:c.874G>A	NP_001304674.1:p.Val292Ile