Canonical Allele Identifier: CA858953488
Gene: ORM1 HGNC NCBI

Linked Data

dbSNP Id: rs1169444435
gnomAD v3: 9-114325713-G-A
gnomAD v4: 9-114325713-G-A
MyVariant Identifiers: chr9:g.117087993G>A (hg19) chr9:g.114325713G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114325713G>A , CM000671.2:g.114325713G>A GRCh38
NC_000009.11:g.117087993G>A , CM000671.1:g.117087993G>A GRCh37
NC_000009.10:g.116127814G>A NCBI36
NG_012108.1:g.7691G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259396.9:c.540+561G>A MANE Select ENSP00000259396.8:n.540+561G>A
ENST00000259396.8:c.540+561G>A ENSP00000259396.8:n.540+561G>A
NM_000607.2:c.540+561G>A NP_000598.2:n.540+561G>A
NM_000607.3:c.540+561G>A NP_000598.2:n.540+561G>A
NM_000607.4:c.540+561G>A MANE Select NP_000598.2:n.540+561G>A
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