Canonical Allele Identifier: CA8485342

Gene: RNF135

Linked Data

• ClinVar Variation Id: 3155040
• ClinVar RCV Id: RCV004454388
• dbSNP Id: rs540091612
• ExAC: 17:29325722 G / A
• gnomAD v2: 17-29325722-G-A
• gnomAD v3: 17-30998704-G-A
• gnomAD v4: 17-30998704-G-A
• MyVariant Identifiers: chr17:g.29325722G>A (hg19) ; chr17:g.30998704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998704G>A , CM000679.2:g.30998704G>A	GRCh38
NC_000017.10:g.29325722G>A , CM000679.1:g.29325722G>A	GRCh37
NC_000017.9:g.26349848G>A	NCBI36
NG_011701.1:g.32767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.812G>A MANE Select	ENSP00000328340.5:p.Ser271Asn
ENST00000324689.8:c.*16G>A	ENSP00000323693.4:n.*16G>A
ENST00000328381.9:c.812G>A	ENSP00000328340.5:p.Ser271Asn
ENST00000443677.6:c.*16G>A	ENSP00000411965.2:n.*16G>A
ENST00000535306.6:c.*16G>A	ENSP00000440470.2:n.*16G>A
NM_001184992.1:c.*16G>A	NP_001171921.1:n.*16G>A
NM_032322.3:c.812G>A	NP_115698.3:p.Ser271Asn
NM_197939.1:c.*16G>A	NP_922921.1:n.*16G>A
XM_005258043.3:c.269G>A	XP_005258100.1:p.Ser90Asn
XM_006722138.2:c.491G>A	XP_006722201.1:p.Ser164Asn
XM_017025223.1:c.269G>A	XP_016880712.1:p.Ser90Asn
XM_024451000.1:c.269G>A	XP_024306768.1:p.Ser90Asn
XM_024451001.1:c.269G>A	XP_024306769.1:p.Ser90Asn
XR_002958076.1:n.1145G>A
XR_002958077.1:n.1080G>A
XR_002958078.1:n.917G>A
NM_032322.4:c.812G>A MANE Select	NP_115698.3:p.Ser271Asn
NM_001184992.2:c.*16G>A	NP_001171921.1:n.*16G>A
NM_197939.2:c.*16G>A	NP_922921.1:n.*16G>A