Canonical Allele Identifier: CA5203481
Community Standard Title: NM_000607.4(ORM1):c.113G>A (p.Arg38Gln)
Gene: ORM1 HGNC NCBI
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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
NM_000607.4:c.113G>A MANE Select NP_000598.2:p.Arg38Gln
ENST00000259396.9:c.113G>A MANE Select 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
ENST00000259396.8:c.113G>A ENSP00000259396.8:p.Arg38Gln
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