Canonical Allele Identifier: CA399203088

Gene: RNF135

Linked Data

• gnomAD v4: 17-30998754-C-T
• MyVariant Identifiers: chr17:g.29325772C>T (hg19) ; chr17:g.30998754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30998754C>T , CM000679.2:g.30998754C>T	GRCh38
NC_000017.10:g.29325772C>T , CM000679.1:g.29325772C>T	GRCh37
NC_000017.9:g.26349898C>T	NCBI36
NG_011701.1:g.32817C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328381.10:c.862C>T MANE Select	ENSP00000328340.5:p.Gln288Ter
ENST00000324689.8:c.*66C>T	ENSP00000323693.4:n.*66C>T
ENST00000328381.9:c.862C>T	ENSP00000328340.5:p.Gln288Ter
ENST00000443677.6:c.*66C>T	ENSP00000411965.2:n.*66C>T
ENST00000535306.6:c.*66C>T	ENSP00000440470.2:n.*66C>T
NM_001184992.1:c.*66C>T	NP_001171921.1:n.*66C>T
NM_032322.3:c.862C>T	NP_115698.3:p.Gln288Ter
NM_197939.1:c.*66C>T	NP_922921.1:n.*66C>T
XM_005258043.3:c.319C>T	XP_005258100.1:p.Gln107Ter
XM_006722138.2:c.541C>T	XP_006722201.1:p.Gln181Ter
XM_017025223.1:c.319C>T	XP_016880712.1:p.Gln107Ter
XM_024451000.1:c.319C>T	XP_024306768.1:p.Gln107Ter
XM_024451001.1:c.319C>T	XP_024306769.1:p.Gln107Ter
XR_002958077.1:n.1130C>T
NM_032322.4:c.862C>T MANE Select	NP_115698.3:p.Gln288Ter
NM_001184992.2:c.*66C>T	NP_001171921.1:n.*66C>T
NM_197939.2:c.*66C>T	NP_922921.1:n.*66C>T