Canonical Allele Identifier: CA5196568

Gene: ALAD

Linked Data

• ClinVar Variation Id: 1933378
• ClinVar RCV Id: RCV002626909
• dbSNP Id: rs759085292
• ExAC: 9:116153828 G / A
• gnomAD v2: 9-116153828-G-A
• gnomAD v4: 9-113391548-G-A
• COSMIC: COSM242894 ; COSM6047997 ; COSM6047998
• MyVariant Identifiers: chr9:g.116153828G>A (hg19) ; chr9:g.113391548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391548G>A , CM000671.2:g.113391548G>A	GRCh38
NC_000009.11:g.116153828G>A , CM000671.1:g.116153828G>A	GRCh37
NC_000009.10:g.115193649G>A	NCBI36
NG_008716.1:g.14791C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.240C>T MANE Select	ENSP00000386284.3:p.Gly80=
ENST00000409155.7:c.240C>T	ENSP00000386284.3:p.Gly80=
ENST00000448137.5:c.267C>T	ENSP00000392748.1:p.Gly89=
ENST00000464749.5:n.258-615C>T
ENST00000468504.5:n.362C>T
ENST00000482001.1:n.513C>T
ENST00000482847.5:n.513C>T
NM_000031.5:c.240C>T	NP_000022.3:p.Gly80=
XM_005251799.1:c.327C>T	XP_005251856.1:p.Gly109=
XM_011518363.1:c.366C>T	XP_011516665.1:p.Gly122=
XM_011518364.1:c.267C>T	XP_011516666.1:p.Gly89=
NM_001003945.2:c.327C>T	NP_001003945.1:p.Gly109=
NM_001317745.1:c.216C>T	NP_001304674.1:p.Gly72=
XM_011518364.2:c.267C>T	XP_011516666.1:p.Gly89=
XM_024447449.1:c.327C>T	XP_024303217.1:p.Gly109=
XR_002956764.1:n.740C>T
NM_000031.6:c.240C>T MANE Select	NP_000022.3:p.Gly80=
NM_001003945.3:c.327C>T	NP_001003945.1:p.Gly109=
NM_001317745.2:c.216C>T	NP_001304674.1:p.Gly72=