Canonical Allele Identifier: CA5203481
Gene: ORM1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.114323246G>A
GRCh37 chr9:g.117085526G>A
Revel Score:
ENST00000259396 (MANE Select) 0.002
ENST00000538816 0.002
gnomAD v2:
9:117085526 G / A
gnomAD v3:
9:114323246 G / A
gnomAD v4:
chr9-114323246-G-A
Joint Max Group AF 0.74328034 (EAS)
Genomes Max Group AF 0.7200852 (EAS)
Exomes Max Group AF 0.74401377 (EAS)
ClinVar RCV:
RCV000947197
ClinVar Variation:
768319
dbSNP:
17650
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114323246G>A , CM000671.2:g.114323246G>A GRCh38
NC_000009.11:g.117085526G>A , CM000671.1:g.117085526G>A GRCh37
NC_000009.10:g.116125347G>A NCBI36
NG_012108.1:g.5224G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259396.9:c.113G>A MANE Select ENSP00000259396.8:p.Arg38Gln
ENST00000259396.8:c.113G>A ENSP00000259396.8:p.Arg38Gln
NM_000607.2:c.113G>A NP_000598.2:p.Arg38Gln
NM_000607.3:c.113G>A NP_000598.2:p.Arg38Gln
NM_000607.4:c.113G>A MANE Select NP_000598.2:p.Arg38Gln
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