Canonical Allele Identifier: CA10626247

Gene: ALAD

Linked Data

• ClinVar Variation Id: 364636
• ClinVar RCV Id: RCV000366744
• dbSNP Id: rs557867804
• gnomAD v2: 9-116150180-C-T
• gnomAD v3: 9-113387900-C-T
• gnomAD v4: 9-113387900-C-T
• MyVariant Identifiers: chr9:g.116150180C>T (hg19) ; chr9:g.113387900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113387900C>T , CM000671.2:g.113387900C>T	GRCh38
NC_000009.11:g.116150180C>T , CM000671.1:g.116150180C>T	GRCh37
NC_000009.10:g.115190001C>T	NCBI36
NG_008716.1:g.18439G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.*400G>A MANE Select	ENSP00000386284.3:n.*400G>A
ENST00000409155.7:c.*400G>A	ENSP00000386284.3:n.*400G>A
ENST00000482847.5:n.1666G>A
NM_000031.5:c.*400G>A	NP_000022.3:n.*400G>A
XM_005251799.1:c.*400G>A	XP_005251856.1:n.*400G>A
XM_011518363.1:c.*400G>A	XP_011516665.1:n.*400G>A
XM_011518364.1:c.*400G>A	XP_011516666.1:n.*400G>A
NM_001003945.2:c.*400G>A	NP_001003945.1:n.*400G>A
NM_001317745.1:c.*400G>A	NP_001304674.1:n.*400G>A
XM_011518364.2:c.*400G>A	XP_011516666.1:n.*400G>A
XM_024447449.1:c.*400G>A	XP_024303217.1:n.*400G>A
NM_000031.6:c.*400G>A MANE Select	NP_000022.3:n.*400G>A
NM_001003945.3:c.*400G>A	NP_001003945.1:n.*400G>A
NM_001317745.2:c.*400G>A	NP_001304674.1:n.*400G>A