Canonical Allele Identifier: CA466758202

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391539-G-A
• MyVariant Identifiers: chr9:g.116153819G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391539G>A , CM000671.2:g.113391539G>A	GRCh38
NC_000009.11:g.116153819G>A , CM000671.1:g.116153819G>A	GRCh37
NC_000009.10:g.115193640G>A	NCBI36
NG_008716.1:g.14800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.249C>T MANE Select	ENSP00000386284.3:p.Ser83=
ENST00000409155.7:c.249C>T	ENSP00000386284.3:p.Ser83=
ENST00000448137.5:c.276C>T	ENSP00000392748.1:p.Ser92=
ENST00000464749.5:n.258-606C>T
ENST00000468504.5:n.371C>T
ENST00000482001.1:n.522C>T
ENST00000482847.5:n.522C>T
NM_000031.5:c.249C>T	NP_000022.3:p.Ser83=
XM_005251799.1:c.336C>T	XP_005251856.1:p.Ser112=
XM_011518363.1:c.375C>T	XP_011516665.1:p.Ser125=
XM_011518364.1:c.276C>T	XP_011516666.1:p.Ser92=
NM_001003945.2:c.336C>T	NP_001003945.1:p.Ser112=
NM_001317745.1:c.225C>T	NP_001304674.1:p.Ser75=
XM_011518364.2:c.276C>T	XP_011516666.1:p.Ser92=
XM_024447449.1:c.336C>T	XP_024303217.1:p.Ser112=
XR_002956764.1:n.749C>T
NM_000031.6:c.249C>T MANE Select	NP_000022.3:p.Ser83=
NM_001003945.3:c.336C>T	NP_001003945.1:p.Ser112=
NM_001317745.2:c.225C>T	NP_001304674.1:p.Ser75=