Canonical Allele Identifier: CA399202893

Gene: RNF135

Linked Data

• gnomAD v4: 17-30998665-C-A
• MyVariant Identifiers: chr17:g.29325683C>A (hg19) ; chr17:g.30998665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998665C>A , CM000679.2:g.30998665C>A	GRCh38
NC_000017.10:g.29325683C>A , CM000679.1:g.29325683C>A	GRCh37
NC_000017.9:g.26349809C>A	NCBI36
NG_011701.1:g.32728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.773C>A MANE Select	ENSP00000328340.5:p.Ala258Asp
ENST00000324689.8:c.610C>A	ENSP00000323693.4:p.Pro204Thr
ENST00000328381.9:c.773C>A	ENSP00000328340.5:p.Ala258Asp
ENST00000443677.6:c.466C>A	ENSP00000411965.2:p.Pro156Thr
ENST00000535306.6:c.838C>A	ENSP00000440470.2:p.Pro280Thr
NM_001184992.1:c.838C>A	NP_001171921.1:p.Pro280Thr
NM_032322.3:c.773C>A	NP_115698.3:p.Ala258Asp
NM_197939.1:c.610C>A	NP_922921.1:p.Pro204Thr
XM_005258043.3:c.230C>A	XP_005258100.1:p.Ala77Asp
XM_006722138.2:c.452C>A	XP_006722201.1:p.Ala151Asp
XM_017025223.1:c.230C>A	XP_016880712.1:p.Ala77Asp
XM_024451000.1:c.230C>A	XP_024306768.1:p.Ala77Asp
XM_024451001.1:c.230C>A	XP_024306769.1:p.Ala77Asp
XR_002958076.1:n.1106C>A
XR_002958077.1:n.1041C>A
XR_002958078.1:n.878C>A
NM_032322.4:c.773C>A MANE Select	NP_115698.3:p.Ala258Asp
NM_001184992.2:c.838C>A	NP_001171921.1:p.Pro280Thr
NM_197939.2:c.610C>A	NP_922921.1:p.Pro204Thr