Canonical Allele Identifier: CA126933
Gene: ALAD HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.113391611C>G
GRCh37 chr9:g.116153891C>G
Revel Score:
ENST00000409155 (MANE Select) 0.232
ENST00000277315 0.232
ENST00000448137 0.232
gnomAD v2:
9:116153891 C / G
gnomAD v3:
9:113391611 C / G
gnomAD v4:
chr9-113391611-C-G
Joint Max Group AF 0.14086463 (SAS)
Genomes Max Group AF 0.14128699 (SAS)
Exomes Max Group AF 0.14039627 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113391611C>G , CM000671.2:g.113391611C>G GRCh38
NC_000009.11:g.116153891C>G , CM000671.1:g.116153891C>G GRCh37
NC_000009.10:g.115193712C>G NCBI36
NG_008716.1:g.14728G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409155.8:c.177G>C MANE Select ENSP00000386284.3:p.Lys59Asn
ENST00000409155.7:c.177G>C ENSP00000386284.3:p.Lys59Asn
ENST00000448137.5:c.204G>C ENSP00000392748.1:p.Lys68Asn
ENST00000464749.5:n.258-678G>C
ENST00000468504.5:n.299G>C
ENST00000482001.1:n.450G>C
ENST00000482847.5:n.450G>C
NM_000031.5:c.177G>C NP_000022.3:p.Lys59Asn
XM_005251799.1:c.264G>C XP_005251856.1:p.Lys88Asn
XM_011518363.1:c.303G>C XP_011516665.1:p.Lys101Asn
XM_011518364.1:c.204G>C XP_011516666.1:p.Lys68Asn
NM_001003945.2:c.264G>C NP_001003945.1:p.Lys88Asn
NM_001317745.1:c.153G>C NP_001304674.1:p.Lys51Asn
XM_011518364.2:c.204G>C XP_011516666.1:p.Lys68Asn
XM_024447449.1:c.264G>C XP_024303217.1:p.Lys88Asn
XR_002956764.1:n.677G>C
NM_000031.6:c.177G>C MANE Select NP_000022.3:p.Lys59Asn
NM_001003945.3:c.264G>C NP_001003945.1:p.Lys88Asn
NM_001317745.2:c.153G>C NP_001304674.1:p.Lys51Asn
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