Canonical Allele Identifier: CA201529
Gene: ROM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195063
ClinVar RCV Id: RCV000175583 RCV000284626 RCV001000395 RCV000959711 RCV003888624
dbSNP Id: rs137950927
ExAC: 11:62381951 T / C
gnomAD v2: 11-62381951-T-C
gnomAD v3: 11-62614479-T-C
gnomAD v4: 11-62614479-T-C
MyVariant Identifiers: chr11:g.62381951T>C (hg19) chr11:g.62614479T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62614479T>C , CM000673.2:g.62614479T>C GRCh38
NC_000011.9:g.62381951T>C , CM000673.1:g.62381951T>C GRCh37
NC_000011.8:g.62138527T>C NCBI36
NG_009845.1:g.6739T>C
NG_031863.1:g.12697A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278833.4:c.812T>C MANE Select ENSP00000278833.3:p.Met271Thr
ENST00000278833.3:c.812T>C ENSP00000278833.3:p.Met271Thr
ENST00000525947.1:c.184T>C ENSP00000432983.1:p.Cys62Arg
ENST00000534093.5:c.184T>C ENSP00000432151.1:p.Cys62Arg
NM_000327.3:c.812T>C NP_000318.1:p.Met271Thr
NM_000327.4:c.812T>C MANE Select NP_000318.2:p.Met271Thr
Search 100 bp 5'
Search 100 bp 3'