Canonical Allele Identifier: CA8485334

Gene: RNF135

Linked Data

• dbSNP Id: rs772497150
• ExAC: 17:29325685 A / G
• gnomAD v2: 17-29325685-A-G
• gnomAD v4: 17-30998667-A-G
• MyVariant Identifiers: chr17:g.29325685A>G (hg19) ; chr17:g.30998667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998667A>G , CM000679.2:g.30998667A>G	GRCh38
NC_000017.10:g.29325685A>G , CM000679.1:g.29325685A>G	GRCh37
NC_000017.9:g.26349811A>G	NCBI36
NG_011701.1:g.32730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.775A>G MANE Select	ENSP00000328340.5:p.Ile259Val
ENST00000324689.8:c.612A>G	ENSP00000323693.4:p.Pro204=
ENST00000328381.9:c.775A>G	ENSP00000328340.5:p.Ile259Val
ENST00000443677.6:c.468A>G	ENSP00000411965.2:p.Pro156=
ENST00000535306.6:c.840A>G	ENSP00000440470.2:p.Pro280=
NM_001184992.1:c.840A>G	NP_001171921.1:p.Pro280=
NM_032322.3:c.775A>G	NP_115698.3:p.Ile259Val
NM_197939.1:c.612A>G	NP_922921.1:p.Pro204=
XM_005258043.3:c.232A>G	XP_005258100.1:p.Ile78Val
XM_006722138.2:c.454A>G	XP_006722201.1:p.Ile152Val
XM_017025223.1:c.232A>G	XP_016880712.1:p.Ile78Val
XM_024451000.1:c.232A>G	XP_024306768.1:p.Ile78Val
XM_024451001.1:c.232A>G	XP_024306769.1:p.Ile78Val
XR_002958076.1:n.1108A>G
XR_002958077.1:n.1043A>G
XR_002958078.1:n.880A>G
NM_032322.4:c.775A>G MANE Select	NP_115698.3:p.Ile259Val
NM_001184992.2:c.840A>G	NP_001171921.1:p.Pro280=
NM_197939.2:c.612A>G	NP_922921.1:p.Pro204=