Canonical Allele Identifier: CA399202923

Gene: RNF135

Linked Data

• gnomAD v4: 17-30998676-A-C
• MyVariant Identifiers: chr17:g.29325694A>C (hg19) ; chr17:g.30998676A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998676A>C , CM000679.2:g.30998676A>C	GRCh38
NC_000017.10:g.29325694A>C , CM000679.1:g.29325694A>C	GRCh37
NC_000017.9:g.26349820A>C	NCBI36
NG_011701.1:g.32739A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.784A>C MANE Select	ENSP00000328340.5:p.Thr262Pro
ENST00000324689.8:c.621A>C	ENSP00000323693.4:p.Gln207His
ENST00000328381.9:c.784A>C	ENSP00000328340.5:p.Thr262Pro
ENST00000443677.6:c.477A>C	ENSP00000411965.2:p.Gln159His
ENST00000535306.6:c.849A>C	ENSP00000440470.2:p.Gln283His
NM_001184992.1:c.849A>C	NP_001171921.1:p.Gln283His
NM_032322.3:c.784A>C	NP_115698.3:p.Thr262Pro
NM_197939.1:c.621A>C	NP_922921.1:p.Gln207His
XM_005258043.3:c.241A>C	XP_005258100.1:p.Thr81Pro
XM_006722138.2:c.463A>C	XP_006722201.1:p.Thr155Pro
XM_017025223.1:c.241A>C	XP_016880712.1:p.Thr81Pro
XM_024451000.1:c.241A>C	XP_024306768.1:p.Thr81Pro
XM_024451001.1:c.241A>C	XP_024306769.1:p.Thr81Pro
XR_002958076.1:n.1117A>C
XR_002958077.1:n.1052A>C
XR_002958078.1:n.889A>C
NM_032322.4:c.784A>C MANE Select	NP_115698.3:p.Thr262Pro
NM_001184992.2:c.849A>C	NP_001171921.1:p.Gln283His
NM_197939.2:c.621A>C	NP_922921.1:p.Gln207His