Canonical Allele Identifier: CA8930374

Gene: RNF125

Linked Data

• ClinVar Variation Id: 542141
• ClinVar RCV Id: RCV000652522 ; RCV002060772 ; RCV002530550
• dbSNP Id: rs776932441
• ExAC: 18:29598907 C / A
• gnomAD v2: 18-29598907-C-A
• gnomAD v3: 18-32018944-C-A
• gnomAD v4: 18-32018944-C-A
• MyVariant Identifiers: chr18:g.29598907C>A (hg19) ; chr18:g.32018944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.32018944C>A , CM000680.2:g.32018944C>A	GRCh38
NC_000018.9:g.29598907C>A , CM000680.1:g.29598907C>A	GRCh37
NC_000018.8:g.27852905C>A	NCBI36
NG_042056.1:g.5463C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217740.4:c.81C>A MANE Select	ENSP00000217740.3:p.Asp27Glu
ENST00000217740.3:c.81C>A	ENSP00000217740.3:p.Asp27Glu
NM_017831.3:c.81C>A	NP_060301.2:p.Asp27Glu
XM_011526045.1:c.81C>A	XP_011524347.1:p.Asp27Glu
XM_011526046.1:c.81C>A	XP_011524348.1:p.Asp27Glu
XM_011526047.1:c.81C>A	XP_011524349.1:p.Asp27Glu
XM_011526045.3:c.81C>A	XP_011524347.1:p.Asp27Glu
XM_011526046.3:c.81C>A	XP_011524348.1:p.Asp27Glu
XM_011526047.3:c.81C>A	XP_011524349.1:p.Asp27Glu
NM_017831.4:c.81C>A MANE Select	NP_060301.2:p.Asp27Glu