Canonical Allele Identifier: CA374562960

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389007-G-T
• MyVariant Identifiers: chr9:g.116151287G>T (hg19) ; chr9:g.113389007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389007G>T , CM000671.2:g.113389007G>T	GRCh38
NC_000009.11:g.116151287G>T , CM000671.1:g.116151287G>T	GRCh37
NC_000009.10:g.115191108G>T	NCBI36
NG_008716.1:g.17332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.901C>A MANE Select	ENSP00000386284.3:p.Leu301Met
ENST00000409155.7:c.901C>A	ENSP00000386284.3:p.Leu301Met
ENST00000482847.5:n.1174C>A
NM_000031.5:c.901C>A	NP_000022.3:p.Leu301Met
XM_005251799.1:c.988C>A	XP_005251856.1:p.Leu330Met
XM_011518363.1:c.1027C>A	XP_011516665.1:p.Leu343Met
XM_011518364.1:c.928C>A	XP_011516666.1:p.Leu310Met
NM_001003945.2:c.988C>A	NP_001003945.1:p.Leu330Met
NM_001317745.1:c.877C>A	NP_001304674.1:p.Leu293Met
XM_011518364.2:c.928C>A	XP_011516666.1:p.Leu310Met
XM_024447449.1:c.988C>A	XP_024303217.1:p.Leu330Met
NM_000031.6:c.901C>A MANE Select	NP_000022.3:p.Leu301Met
NM_001003945.3:c.988C>A	NP_001003945.1:p.Leu330Met
NM_001317745.2:c.877C>A	NP_001304674.1:p.Leu293Met