Canonical Allele Identifier: CA374563138

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389091-G-C
• MyVariant Identifiers: chr9:g.116151371G>C (hg19) ; chr9:g.113389091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389091G>C , CM000671.2:g.113389091G>C	GRCh38
NC_000009.11:g.116151371G>C , CM000671.1:g.116151371G>C	GRCh37
NC_000009.10:g.115191192G>C	NCBI36
NG_008716.1:g.17248C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.817C>G MANE Select	ENSP00000386284.3:p.Leu273Val
ENST00000409155.7:c.817C>G	ENSP00000386284.3:p.Leu273Val
ENST00000482847.5:n.1090C>G
NM_000031.5:c.817C>G	NP_000022.3:p.Leu273Val
XM_005251799.1:c.904C>G	XP_005251856.1:p.Leu302Val
XM_011518363.1:c.943C>G	XP_011516665.1:p.Leu315Val
XM_011518364.1:c.844C>G	XP_011516666.1:p.Leu282Val
NM_001003945.2:c.904C>G	NP_001003945.1:p.Leu302Val
NM_001317745.1:c.793C>G	NP_001304674.1:p.Leu265Val
XM_011518364.2:c.844C>G	XP_011516666.1:p.Leu282Val
XM_024447449.1:c.904C>G	XP_024303217.1:p.Leu302Val
NM_000031.6:c.817C>G MANE Select	NP_000022.3:p.Leu273Val
NM_001003945.3:c.904C>G	NP_001003945.1:p.Leu302Val
NM_001317745.2:c.793C>G	NP_001304674.1:p.Leu265Val