Canonical Allele Identifier: CA12968419

Gene: ALAD

Linked Data

• ClinVar Variation Id: 1180338
• ClinVar RCV Id: RCV001537525
• dbSNP Id: rs1805313
• gnomAD v2: 9-116151191-A-G
• gnomAD v3: 9-113388911-A-G
• gnomAD v4: 9-113388911-A-G
• MyVariant Identifiers: chr9:g.116151191A>G (hg19) ; chr9:g.113388911A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388911A>G , CM000671.2:g.113388911A>G	GRCh38
NC_000009.11:g.116151191A>G , CM000671.1:g.116151191A>G	GRCh37
NC_000009.10:g.115191012A>G	NCBI36
NG_008716.1:g.17428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+66T>C MANE Select	ENSP00000386284.3:n.931+66T>C
ENST00000409155.7:c.931+66T>C	ENSP00000386284.3:n.931+66T>C
ENST00000482847.5:n.1204+66T>C
NM_000031.5:c.931+66T>C	NP_000022.3:n.931+66T>C
XM_005251799.1:c.1018+66T>C	XP_005251856.1:n.1018+66T>C
XM_011518363.1:c.1057+66T>C	XP_011516665.1:n.1057+66T>C
XM_011518364.1:c.958+66T>C	XP_011516666.1:n.958+66T>C
NM_001003945.2:c.1018+66T>C	NP_001003945.1:n.1018+66T>C
NM_001317745.1:c.907+66T>C	NP_001304674.1:n.907+66T>C
XM_011518364.2:c.958+66T>C	XP_011516666.1:n.958+66T>C
XM_024447449.1:c.1018+66T>C	XP_024303217.1:n.1018+66T>C
NM_000031.6:c.931+66T>C MANE Select	NP_000022.3:n.931+66T>C
NM_001003945.3:c.1018+66T>C	NP_001003945.1:n.1018+66T>C
NM_001317745.2:c.907+66T>C	NP_001304674.1:n.907+66T>C