Canonical Allele Identifier: CA198545581

Gene: ALAD

Linked Data

• dbSNP Id: rs201859063
• gnomAD v3: 9-113389021-A-G
• gnomAD v4: 9-113389021-A-G
• MyVariant Identifiers: chr9:g.116151301A>G (hg19) ; chr9:g.113389021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389021A>G , CM000671.2:g.113389021A>G	GRCh38
NC_000009.11:g.116151301A>G , CM000671.1:g.116151301A>G	GRCh37
NC_000009.10:g.115191122A>G	NCBI36
NG_008716.1:g.17318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.887T>C MANE Select	ENSP00000386284.3:p.Leu296Pro
ENST00000409155.7:c.887T>C	ENSP00000386284.3:p.Leu296Pro
ENST00000482847.5:n.1160T>C
NM_000031.5:c.887T>C	NP_000022.3:p.Leu296Pro
XM_005251799.1:c.974T>C	XP_005251856.1:p.Leu325Pro
XM_011518363.1:c.1013T>C	XP_011516665.1:p.Leu338Pro
XM_011518364.1:c.914T>C	XP_011516666.1:p.Leu305Pro
NM_001003945.2:c.974T>C	NP_001003945.1:p.Leu325Pro
NM_001317745.1:c.863T>C	NP_001304674.1:p.Leu288Pro
XM_011518364.2:c.914T>C	XP_011516666.1:p.Leu305Pro
XM_024447449.1:c.974T>C	XP_024303217.1:p.Leu325Pro
NM_000031.6:c.887T>C MANE Select	NP_000022.3:p.Leu296Pro
NM_001003945.3:c.974T>C	NP_001003945.1:p.Leu325Pro
NM_001317745.2:c.863T>C	NP_001304674.1:p.Leu288Pro