Canonical Allele Identifier: CA399203133

Gene: RNF135

Linked Data

• gnomAD v4: 17-30998773-G-C
• MyVariant Identifiers: chr17:g.29325791G>C (hg19) ; chr17:g.30998773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998773G>C , CM000679.2:g.30998773G>C	GRCh38
NC_000017.10:g.29325791G>C , CM000679.1:g.29325791G>C	GRCh37
NC_000017.9:g.26349917G>C	NCBI36
NG_011701.1:g.32836G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.881G>C MANE Select	ENSP00000328340.5:p.Cys294Ser
ENST00000324689.8:c.*85G>C	ENSP00000323693.4:n.*85G>C
ENST00000328381.9:c.881G>C	ENSP00000328340.5:p.Cys294Ser
ENST00000443677.6:c.*85G>C	ENSP00000411965.2:n.*85G>C
ENST00000535306.6:c.*85G>C	ENSP00000440470.2:n.*85G>C
NM_001184992.1:c.*85G>C	NP_001171921.1:n.*85G>C
NM_032322.3:c.881G>C	NP_115698.3:p.Cys294Ser
NM_197939.1:c.*85G>C	NP_922921.1:n.*85G>C
XM_005258043.3:c.338G>C	XP_005258100.1:p.Cys113Ser
XM_006722138.2:c.560G>C	XP_006722201.1:p.Cys187Ser
XM_017025223.1:c.338G>C	XP_016880712.1:p.Cys113Ser
XM_024451000.1:c.338G>C	XP_024306768.1:p.Cys113Ser
XM_024451001.1:c.338G>C	XP_024306769.1:p.Cys113Ser
XR_002958077.1:n.1149G>C
NM_032322.4:c.881G>C MANE Select	NP_115698.3:p.Cys294Ser
NM_001184992.2:c.*85G>C	NP_001171921.1:n.*85G>C
NM_197939.2:c.*85G>C	NP_922921.1:n.*85G>C