Canonical Allele Identifier: CA126937

Gene: ALAD

Linked Data

• ClinVar Variation Id: 16867
• ClinVar RCV Id: RCV000018363 ; RCV000413492
• dbSNP Id: rs121912984
• ExAC: 9:116155804 G / C
• gnomAD v2: 9-116155804-G-C
• gnomAD v3: 9-113393524-G-C
• gnomAD v4: 9-113393524-G-C
• MyVariant Identifiers: chr9:g.116155804G>C (hg19) ; chr9:g.113393524G>C (hg38)
• PubMed: PMID:10519994 ; PMID:16398658

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113393524G>C , CM000671.2:g.113393524G>C	GRCh38
NC_000009.11:g.116155804G>C , CM000671.1:g.116155804G>C	GRCh37
NC_000009.10:g.115195625G>C	NCBI36
NG_008716.1:g.12815C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.36C>G MANE Select	ENSP00000386284.3:p.Phe12Leu
ENST00000409155.7:c.36C>G	ENSP00000386284.3:p.Phe12Leu
ENST00000448137.5:c.63C>G	ENSP00000392748.1:p.Phe21Leu
ENST00000452726.1:c.63C>G	ENSP00000415737.1:p.Phe21Leu
ENST00000464749.5:n.180C>G
ENST00000468504.5:n.158C>G
ENST00000482847.5:n.143C>G
ENST00000494848.1:n.184C>G
NM_000031.5:c.36C>G	NP_000022.3:p.Phe12Leu
XM_005251799.1:c.-44C>G	XP_005251856.1:n.-44C>G
XM_011518363.1:c.162C>G	XP_011516665.1:p.Phe54Leu
XM_011518364.1:c.63C>G	XP_011516666.1:p.Phe21Leu
NM_001003945.2:c.-44C>G	NP_001003945.1:n.-44C>G
NM_001317745.1:c.63C>G	NP_001304674.1:p.Phe21Leu
XM_011518364.2:c.63C>G	XP_011516666.1:p.Phe21Leu
XM_024447449.1:c.-44C>G	XP_024303217.1:n.-44C>G
XR_002956764.1:n.536C>G
NM_000031.6:c.36C>G MANE Select	NP_000022.3:p.Phe12Leu
NM_001003945.3:c.-44C>G	NP_001003945.1:n.-44C>G
NM_001317745.2:c.63C>G	NP_001304674.1:p.Phe21Leu