Canonical Allele Identifier: CA126937
Gene: ALAD HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.113393524G>C
GRCh37 chr9:g.116155804G>C
Revel Score:
ENST00000409155 (MANE Select) 0.656
ENST00000277315 0.656
ENST00000448137 0.656
ENST00000452726 0.656
gnomAD v2:
9:116155804 G / C
gnomAD v3:
9:113393524 G / C
gnomAD v4:
chr9-113393524-G-C
Joint Max Group AF 0.00009191 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00009291 (NFE)
ClinVar RCV:
RCV000018363
RCV000413492
ClinVar Variation:
16867
dbSNP:
121912984
JSON-LD

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
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