Canonical Allele Identifier: CA12998292
Gene: ORM1 HGNC NCBI
dbSNP:
10982156
gnomAD v2:
9:117088064 T / A
gnomAD v3:
9:114325784 T / A
gnomAD v4:
chr9-114325784-T-A
Joint Max Group AF 0.0784939 (AMR)
Genomes Max Group AF 0.0784939 (AMR)
MyVariant.info:
GRCh38 chr9:g.114325784T>A
GRCh37 chr9:g.117088064T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114325784T>A , CM000671.2:g.114325784T>A GRCh38
NC_000009.11:g.117088064T>A , CM000671.1:g.117088064T>A GRCh37
NC_000009.10:g.116127885T>A NCBI36
NG_012108.1:g.7762T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259396.9:c.541-508T>A MANE Select ENSP00000259396.8:n.541-508T>A
ENST00000259396.8:c.541-508T>A ENSP00000259396.8:n.541-508T>A
NM_000607.2:c.541-508T>A NP_000598.2:n.541-508T>A
NM_000607.3:c.541-508T>A NP_000598.2:n.541-508T>A
NM_000607.4:c.541-508T>A MANE Select NP_000598.2:n.541-508T>A
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