Canonical Allele Identifier: CA374564937

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391532-G-T
• MyVariant Identifiers: chr9:g.116153812G>T (hg19) ; chr9:g.113391532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391532G>T , CM000671.2:g.113391532G>T	GRCh38
NC_000009.11:g.116153812G>T , CM000671.1:g.116153812G>T	GRCh37
NC_000009.10:g.115193633G>T	NCBI36
NG_008716.1:g.14807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.256C>A MANE Select	ENSP00000386284.3:p.Pro86Thr
ENST00000409155.7:c.256C>A	ENSP00000386284.3:p.Pro86Thr
ENST00000448137.5:c.283C>A	ENSP00000392748.1:p.Pro95Thr
ENST00000464749.5:n.258-599C>A
ENST00000468504.5:n.378C>A
ENST00000482001.1:n.529C>A
ENST00000482847.5:n.529C>A
NM_000031.5:c.256C>A	NP_000022.3:p.Pro86Thr
XM_005251799.1:c.343C>A	XP_005251856.1:p.Pro115Thr
XM_011518363.1:c.382C>A	XP_011516665.1:p.Pro128Thr
XM_011518364.1:c.283C>A	XP_011516666.1:p.Pro95Thr
NM_001003945.2:c.343C>A	NP_001003945.1:p.Pro115Thr
NM_001317745.1:c.232C>A	NP_001304674.1:p.Pro78Thr
XM_011518364.2:c.283C>A	XP_011516666.1:p.Pro95Thr
XM_024447449.1:c.343C>A	XP_024303217.1:p.Pro115Thr
XR_002956764.1:n.756C>A
NM_000031.6:c.256C>A MANE Select	NP_000022.3:p.Pro86Thr
NM_001003945.3:c.343C>A	NP_001003945.1:p.Pro115Thr
NM_001317745.2:c.232C>A	NP_001304674.1:p.Pro78Thr