Canonical Allele Identifier: CA289701887

Gene: RNF135

Linked Data

• dbSNP Id: rs996303034
• gnomAD v3: 17-30998782-T-C
• gnomAD v4: 17-30998782-T-C
• MyVariant Identifiers: chr17:g.29325800T>C (hg19) ; chr17:g.30998782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998782T>C , CM000679.2:g.30998782T>C	GRCh38
NC_000017.10:g.29325800T>C , CM000679.1:g.29325800T>C	GRCh37
NC_000017.9:g.26349926T>C	NCBI36
NG_011701.1:g.32845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.890T>C MANE Select	ENSP00000328340.5:p.Phe297Ser
ENST00000324689.8:c.*94T>C	ENSP00000323693.4:n.*94T>C
ENST00000328381.9:c.890T>C	ENSP00000328340.5:p.Phe297Ser
ENST00000443677.6:c.*94T>C	ENSP00000411965.2:n.*94T>C
ENST00000535306.6:c.*94T>C	ENSP00000440470.2:n.*94T>C
NM_001184992.1:c.*94T>C	NP_001171921.1:n.*94T>C
NM_032322.3:c.890T>C	NP_115698.3:p.Phe297Ser
NM_197939.1:c.*94T>C	NP_922921.1:n.*94T>C
XM_005258043.3:c.347T>C	XP_005258100.1:p.Phe116Ser
XM_006722138.2:c.569T>C	XP_006722201.1:p.Phe190Ser
XM_017025223.1:c.347T>C	XP_016880712.1:p.Phe116Ser
XM_024451000.1:c.347T>C	XP_024306768.1:p.Phe116Ser
XM_024451001.1:c.347T>C	XP_024306769.1:p.Phe116Ser
XR_002958077.1:n.1158T>C
NM_032322.4:c.890T>C MANE Select	NP_115698.3:p.Phe297Ser
NM_001184992.2:c.*94T>C	NP_001171921.1:n.*94T>C
NM_197939.2:c.*94T>C	NP_922921.1:n.*94T>C