Canonical Allele Identifier: CA5196319

Gene: ALAD

Linked Data

• dbSNP Id: rs778812183
• ExAC: 9:116151287 G / A
• gnomAD v2: 9-116151287-G-A
• gnomAD v3: 9-113389007-G-A
• gnomAD v4: 9-113389007-G-A
• MyVariant Identifiers: chr9:g.116151287G>A (hg19) ; chr9:g.113389007G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.901C>T MANE Select	ENSP00000386284.3:p.Leu301=
ENST00000409155.7:c.901C>T	ENSP00000386284.3:p.Leu301=
ENST00000482847.5:n.1174C>T
NM_000031.5:c.901C>T	NP_000022.3:p.Leu301=
XM_005251799.1:c.988C>T	XP_005251856.1:p.Leu330=
XM_011518363.1:c.1027C>T	XP_011516665.1:p.Leu343=
XM_011518364.1:c.928C>T	XP_011516666.1:p.Leu310=
NM_001003945.2:c.988C>T	NP_001003945.1:p.Leu330=
NM_001317745.1:c.877C>T	NP_001304674.1:p.Leu293=
XM_011518364.2:c.928C>T	XP_011516666.1:p.Leu310=
XM_024447449.1:c.988C>T	XP_024303217.1:p.Leu330=
NM_000031.6:c.901C>T MANE Select	NP_000022.3:p.Leu301=
NM_001003945.3:c.988C>T	NP_001003945.1:p.Leu330=
NM_001317745.2:c.877C>T	NP_001304674.1:p.Leu293=