Canonical Allele Identifier: CA238591

Gene: ROM1

Linked Data

• ClinVar Variation Id: 193085
• ClinVar RCV Id: RCV000724496 ; RCV001103768 ; RCV003888610
• dbSNP Id: rs143166696
• ExAC: 11:62380800 G / A
• gnomAD v2: 11-62380800-G-A
• gnomAD v3: 11-62613328-G-A
• gnomAD v4: 11-62613328-G-A
• MyVariant Identifiers: chr11:g.62380800G>A (hg19) ; chr11:g.62613328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62613328G>A , CM000673.2:g.62613328G>A	GRCh38
NC_000011.9:g.62380800G>A , CM000673.1:g.62380800G>A	GRCh37
NC_000011.8:g.62137376G>A	NCBI36
NG_009845.1:g.5588G>A
NG_031863.1:g.13848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278833.4:c.47G>A MANE Select	ENSP00000278833.3:p.Arg16His
ENST00000278833.3:c.47G>A	ENSP00000278833.3:p.Arg16His
ENST00000525801.1:c.-38-930G>A	ENSP00000433566.1:n.-38-930G>A
ENST00000534093.5:c.-38-930G>A	ENSP00000432151.1:n.-38-930G>A
NM_000327.3:c.47G>A	NP_000318.1:p.Arg16His
NM_000327.4:c.47G>A MANE Select	NP_000318.2:p.Arg16His