Canonical Allele Identifier: CA374562957

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116151286A>C (hg19) ; chr9:g.113389006A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389006A>C , CM000671.2:g.113389006A>C	GRCh38
NC_000009.11:g.116151286A>C , CM000671.1:g.116151286A>C	GRCh37
NC_000009.10:g.115191107A>C	NCBI36
NG_008716.1:g.17333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.902T>G MANE Select	ENSP00000386284.3:p.Leu301Arg
ENST00000409155.7:c.902T>G	ENSP00000386284.3:p.Leu301Arg
ENST00000482847.5:n.1175T>G
NM_000031.5:c.902T>G	NP_000022.3:p.Leu301Arg
XM_005251799.1:c.989T>G	XP_005251856.1:p.Leu330Arg
XM_011518363.1:c.1028T>G	XP_011516665.1:p.Leu343Arg
XM_011518364.1:c.929T>G	XP_011516666.1:p.Leu310Arg
NM_001003945.2:c.989T>G	NP_001003945.1:p.Leu330Arg
NM_001317745.1:c.878T>G	NP_001304674.1:p.Leu293Arg
XM_011518364.2:c.929T>G	XP_011516666.1:p.Leu310Arg
XM_024447449.1:c.989T>G	XP_024303217.1:p.Leu330Arg
NM_000031.6:c.902T>G MANE Select	NP_000022.3:p.Leu301Arg
NM_001003945.3:c.989T>G	NP_001003945.1:p.Leu330Arg
NM_001317745.2:c.878T>G	NP_001304674.1:p.Leu293Arg