Canonical Allele Identifier: CA8485374

Gene: RNF135

Linked Data

• dbSNP Id: rs758480776
• ExAC: 17:29325882 C / G
• gnomAD v2: 17-29325882-C-G
• gnomAD v3: 17-30998864-C-G
• gnomAD v4: 17-30998864-C-G
• MyVariant Identifiers: chr17:g.29325882C>G (hg19) ; chr17:g.30998864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998864C>G , CM000679.2:g.30998864C>G	GRCh38
NC_000017.10:g.29325882C>G , CM000679.1:g.29325882C>G	GRCh37
NC_000017.9:g.26350008C>G	NCBI36
NG_011701.1:g.32927C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328381.10:c.972C>G MANE Select	ENSP00000328340.5:p.His324Gln
ENST00000324689.8:c.*176C>G	ENSP00000323693.4:n.*176C>G
ENST00000328381.9:c.972C>G	ENSP00000328340.5:p.His324Gln
ENST00000443677.6:c.*176C>G	ENSP00000411965.2:n.*176C>G
ENST00000535306.6:c.*176C>G	ENSP00000440470.2:n.*176C>G
NM_001184992.1:c.*176C>G	NP_001171921.1:n.*176C>G
NM_032322.3:c.972C>G	NP_115698.3:p.His324Gln
NM_197939.1:c.*176C>G	NP_922921.1:n.*176C>G
XM_005258043.3:c.429C>G	XP_005258100.1:p.His143Gln
XM_006722138.2:c.651C>G	XP_006722201.1:p.His217Gln
XM_017025223.1:c.429C>G	XP_016880712.1:p.His143Gln
XM_024451000.1:c.429C>G	XP_024306768.1:p.His143Gln
XM_024451001.1:c.429C>G	XP_024306769.1:p.His143Gln
XR_002958077.1:n.1240C>G
NM_032322.4:c.972C>G MANE Select	NP_115698.3:p.His324Gln
NM_001184992.2:c.*176C>G	NP_001171921.1:n.*176C>G
NM_197939.2:c.*176C>G	NP_922921.1:n.*176C>G