Canonical Allele Identifier: CA374564980

Gene: ALAD

Linked Data

• MyVariant Identifiers: chr9:g.116153823G>A (hg19) ; chr9:g.113391543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391543G>A , CM000671.2:g.113391543G>A	GRCh38
NC_000009.11:g.116153823G>A , CM000671.1:g.116153823G>A	GRCh37
NC_000009.10:g.115193644G>A	NCBI36
NG_008716.1:g.14796C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.245C>T MANE Select	ENSP00000386284.3:p.Pro82Leu
ENST00000409155.7:c.245C>T	ENSP00000386284.3:p.Pro82Leu
ENST00000448137.5:c.272C>T	ENSP00000392748.1:p.Pro91Leu
ENST00000464749.5:n.258-610C>T
ENST00000468504.5:n.367C>T
ENST00000482001.1:n.518C>T
ENST00000482847.5:n.518C>T
NM_000031.5:c.245C>T	NP_000022.3:p.Pro82Leu
XM_005251799.1:c.332C>T	XP_005251856.1:p.Pro111Leu
XM_011518363.1:c.371C>T	XP_011516665.1:p.Pro124Leu
XM_011518364.1:c.272C>T	XP_011516666.1:p.Pro91Leu
NM_001003945.2:c.332C>T	NP_001003945.1:p.Pro111Leu
NM_001317745.1:c.221C>T	NP_001304674.1:p.Pro74Leu
XM_011518364.2:c.272C>T	XP_011516666.1:p.Pro91Leu
XM_024447449.1:c.332C>T	XP_024303217.1:p.Pro111Leu
XR_002956764.1:n.745C>T
NM_000031.6:c.245C>T MANE Select	NP_000022.3:p.Pro82Leu
NM_001003945.3:c.332C>T	NP_001003945.1:p.Pro111Leu
NM_001317745.2:c.221C>T	NP_001304674.1:p.Pro74Leu