Canonical Allele Identifier: CA590134266
Gene: ORM1 HGNC NCBI

Linked Data

dbSNP Id: rs1267662623
gnomAD v2: 9-117088089-C-T
gnomAD v3: 9-114325809-C-T
gnomAD v4: 9-114325809-C-T
MyVariant Identifiers: chr9:g.117088089C>T (hg19) chr9:g.114325809C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114325809C>T , CM000671.2:g.114325809C>T GRCh38
NC_000009.11:g.117088089C>T , CM000671.1:g.117088089C>T GRCh37
NC_000009.10:g.116127910C>T NCBI36
NG_012108.1:g.7787C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000259396.9:c.541-483C>T MANE Select ENSP00000259396.8:n.541-483C>T
ENST00000259396.8:c.541-483C>T ENSP00000259396.8:n.541-483C>T
NM_000607.2:c.541-483C>T NP_000598.2:n.541-483C>T
NM_000607.3:c.541-483C>T NP_000598.2:n.541-483C>T
NM_000607.4:c.541-483C>T MANE Select NP_000598.2:n.541-483C>T
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