Canonical Allele Identifier: CA6049795

Gene: ROM1

Linked Data

• ClinVar Variation Id: 305165
• ClinVar RCV Id: RCV000285910 ; RCV000520732
• dbSNP Id: rs141629524
• ExAC: 11:62381732 G / A
• gnomAD v2: 11-62381732-G-A
• gnomAD v3: 11-62614260-G-A
• gnomAD v4: 11-62614260-G-A
• MyVariant Identifiers: chr11:g.62381732G>A (hg19) ; chr11:g.62614260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62614260G>A , CM000673.2:g.62614260G>A	GRCh38
NC_000011.9:g.62381732G>A , CM000673.1:g.62381732G>A	GRCh37
NC_000011.8:g.62138308G>A	NCBI36
NG_009845.1:g.6520G>A
NG_031863.1:g.12916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278833.4:c.593G>A MANE Select	ENSP00000278833.3:p.Arg198Gln
ENST00000278833.3:c.593G>A	ENSP00000278833.3:p.Arg198Gln
ENST00000525801.1:c.-36G>A	ENSP00000433566.1:n.-36G>A
ENST00000525947.1:c.-36G>A	ENSP00000432983.1:n.-36G>A
ENST00000534093.5:c.-36G>A	ENSP00000432151.1:n.-36G>A
NM_000327.3:c.593G>A	NP_000318.1:p.Arg198Gln
NM_000327.4:c.593G>A MANE Select	NP_000318.2:p.Arg198Gln