Canonical Allele Identifier: CA858953517

Gene: ORM1

Linked Data

• dbSNP Id: rs560577436
• gnomAD v3: 9-114325813-T-C
• gnomAD v4: 9-114325813-T-C
• MyVariant Identifiers: chr9:g.117088093T>C (hg19) ; chr9:g.114325813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114325813T>C , CM000671.2:g.114325813T>C	GRCh38
NC_000009.11:g.117088093T>C , CM000671.1:g.117088093T>C	GRCh37
NC_000009.10:g.116127914T>C	NCBI36
NG_012108.1:g.7791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259396.9:c.541-479T>C MANE Select	ENSP00000259396.8:n.541-479T>C
ENST00000259396.8:c.541-479T>C	ENSP00000259396.8:n.541-479T>C
NM_000607.2:c.541-479T>C	NP_000598.2:n.541-479T>C
NM_000607.3:c.541-479T>C	NP_000598.2:n.541-479T>C
NM_000607.4:c.541-479T>C MANE Select	NP_000598.2:n.541-479T>C