Canonical Allele Identifier: CA374562917

Gene: ALAD

Linked Data

• COSMIC: COSM3382401 ; COSM3382402
• MyVariant Identifiers: chr9:g.116151266G>C (hg19) ; chr9:g.113388986G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.922C>G MANE Select	ENSP00000386284.3:p.Arg308Gly
ENST00000409155.7:c.922C>G	ENSP00000386284.3:p.Arg308Gly
ENST00000482847.5:n.1195C>G
NM_000031.5:c.922C>G	NP_000022.3:p.Arg308Gly
XM_005251799.1:c.1009C>G	XP_005251856.1:p.Arg337Gly
XM_011518363.1:c.1048C>G	XP_011516665.1:p.Arg350Gly
XM_011518364.1:c.949C>G	XP_011516666.1:p.Arg317Gly
NM_001003945.2:c.1009C>G	NP_001003945.1:p.Arg337Gly
NM_001317745.1:c.898C>G	NP_001304674.1:p.Arg300Gly
XM_011518364.2:c.949C>G	XP_011516666.1:p.Arg317Gly
XM_024447449.1:c.1009C>G	XP_024303217.1:p.Arg337Gly
NM_000031.6:c.922C>G MANE Select	NP_000022.3:p.Arg308Gly
NM_001003945.3:c.1009C>G	NP_001003945.1:p.Arg337Gly
NM_001317745.2:c.898C>G	NP_001304674.1:p.Arg300Gly