Canonical Allele Identifier: CA186097

Gene: RNF125

Linked Data

• ClinVar Variation Id: 183420
• ClinVar RCV Id: RCV000162241
• dbSNP Id: rs786201014
• MyVariant Identifiers: chr18:g.29622159G>A (hg19) ; chr18:g.32042196G>A (hg38)
• PubMed: PMID:25196541

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.32042196G>A , CM000680.2:g.32042196G>A	GRCh38
NC_000018.9:g.29622159G>A , CM000680.1:g.29622159G>A	GRCh37
NC_000018.8:g.27876157G>A	NCBI36
NG_042056.1:g.28715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217740.4:c.336G>A MANE Select	ENSP00000217740.3:p.Met112Ile
ENST00000217740.3:c.336G>A	ENSP00000217740.3:p.Met112Ile
ENST00000580209.1:c.86-3446G>A
ENST00000580863.1:n.118G>A
ENST00000583384.5:n.179G>A
ENST00000583814.5:n.291G>A
NM_017831.3:c.336G>A	NP_060301.2:p.Met112Ile
XM_011526045.1:c.336G>A	XP_011524347.1:p.Met112Ile
XM_011526046.1:c.336G>A	XP_011524348.1:p.Met112Ile
XM_011526047.1:c.336G>A	XP_011524349.1:p.Met112Ile
XM_011526045.3:c.336G>A	XP_011524347.1:p.Met112Ile
XM_011526046.3:c.336G>A	XP_011524348.1:p.Met112Ile
XM_011526047.3:c.336G>A	XP_011524349.1:p.Met112Ile
NM_017831.4:c.336G>A MANE Select	NP_060301.2:p.Met112Ile