Canonical Allele Identifier: CA399203080

Gene: RNF135

Linked Data

• dbSNP Id: rs121918162
• gnomAD v4: 17-30998749-G-T
• MyVariant Identifiers: chr17:g.29325767G>T (hg19) ; chr17:g.30998749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998749G>T , CM000679.2:g.30998749G>T	GRCh38
NC_000017.10:g.29325767G>T , CM000679.1:g.29325767G>T	GRCh37
NC_000017.9:g.26349893G>T	NCBI36
NG_011701.1:g.32812G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328381.10:c.857G>T MANE Select	ENSP00000328340.5:p.Arg286Leu
ENST00000324689.8:c.*61G>T	ENSP00000323693.4:n.*61G>T
ENST00000328381.9:c.857G>T	ENSP00000328340.5:p.Arg286Leu
ENST00000443677.6:c.*61G>T	ENSP00000411965.2:n.*61G>T
ENST00000535306.6:c.*61G>T	ENSP00000440470.2:n.*61G>T
NM_001184992.1:c.*61G>T	NP_001171921.1:n.*61G>T
NM_032322.3:c.857G>T	NP_115698.3:p.Arg286Leu
NM_197939.1:c.*61G>T	NP_922921.1:n.*61G>T
XM_005258043.3:c.314G>T	XP_005258100.1:p.Arg105Leu
XM_006722138.2:c.536G>T	XP_006722201.1:p.Arg179Leu
XM_017025223.1:c.314G>T	XP_016880712.1:p.Arg105Leu
XM_024451000.1:c.314G>T	XP_024306768.1:p.Arg105Leu
XM_024451001.1:c.314G>T	XP_024306769.1:p.Arg105Leu
XR_002958076.1:n.1190G>T
XR_002958077.1:n.1125G>T
XR_002958078.1:n.962G>T
NM_032322.4:c.857G>T MANE Select	NP_115698.3:p.Arg286Leu
NM_001184992.2:c.*61G>T	NP_001171921.1:n.*61G>T
NM_197939.2:c.*61G>T	NP_922921.1:n.*61G>T