Canonical Allele Identifier: CA6049683
Gene: ROM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3004734
ClinVar RCV Id: RCV003860837
dbSNP Id: rs764759239

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62613541G>T , CM000673.2:g.62613541G>T GRCh38
NC_000011.9:g.62381013G>T , CM000673.1:g.62381013G>T GRCh37
NC_000011.8:g.62137589G>T NCBI36
NG_009845.1:g.5801G>T
NG_031863.1:g.13635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000278833.4:c.260G>T MANE Select ENSP00000278833.3:p.Ser87Ile
ENST00000278833.3:c.260G>T ENSP00000278833.3:p.Ser87Ile
ENST00000525801.1:c.-38-717G>T ENSP00000433566.1:n.-38-717G>T
ENST00000525947.1:c.-273G>T ENSP00000432983.1:n.-273G>T
ENST00000534093.5:c.-38-717G>T ENSP00000432151.1:n.-38-717G>T
NM_000327.3:c.260G>T NP_000318.1:p.Ser87Ile
NM_000327.4:c.260G>T MANE Select NP_000318.2:p.Ser87Ile