Canonical Allele Identifier: CA1516218

Gene: RNASEH1

Linked Data

• dbSNP Id: rs763190915
• ExAC: 2:3596677 G / A
• gnomAD v2: 2-3596677-G-A
• gnomAD v4: 2-3549087-G-A
• COSMIC: COSM5422090
• MyVariant Identifiers: chr2:g.3596677G>A (hg19) ; chr2:g.3549087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549087G>A , CM000664.2:g.3549087G>A	GRCh38
NC_000002.11:g.3596677G>A , CM000664.1:g.3596677G>A	GRCh37
NC_000002.10:g.3574552G>A	NCBI36
NG_051310.1:g.14285C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.535C>T MANE Select	ENSP00000313350.3:p.Arg179Trp
ENST00000654051.1:c.535C>T	ENSP00000499604.1:p.Arg179Trp
ENST00000658393.1:c.535C>T	ENSP00000499330.1:p.Arg179Trp
ENST00000315212.3:c.535C>T	ENSP00000313350.3:p.Arg179Trp
ENST00000436842.5:c.*641C>T	ENSP00000404926.1:n.*641C>T
NM_001286834.1:c.457C>T	NP_001273763.1:p.Arg153Trp
NM_001286837.1:c.184C>T	NP_001273766.1:p.Arg62Trp
NM_002936.4:c.535C>T	NP_002927.2:p.Arg179Trp
XR_244873.1:n.642C>T
XR_922665.1:n.642C>T
XR_922666.1:n.642C>T
XR_922667.1:n.642C>T
XR_922668.1:n.642C>T
XR_922669.1:n.642C>T
XR_922670.1:n.642C>T
XR_922671.1:n.642C>T
XR_922672.1:n.642C>T
XR_922673.1:n.642C>T
XR_922674.1:n.642C>T
NM_001286834.2:c.457C>T	NP_001273763.1:p.Arg153Trp
NM_001286837.2:c.184C>T	NP_001273766.1:p.Arg62Trp
NM_002936.5:c.535C>T	NP_002927.2:p.Arg179Trp
NR_148532.1:n.646C>T
NR_148533.1:n.646C>T
NR_148534.1:n.646C>T
NM_001286837.3:c.184C>T	NP_001273766.1:p.Arg62Trp
NR_148532.2:n.608C>T
NR_148533.2:n.608C>T
NR_148534.2:n.608C>T
NM_001286834.3:c.457C>T	NP_001273763.1:p.Arg153Trp
NM_001378271.1:c.535C>T	NP_001365200.1:p.Arg179Trp
NM_001378272.1:c.532C>T	NP_001365201.1:p.Arg178Trp
NM_001378273.1:c.520C>T	NP_001365202.1:p.Arg174Trp
NM_002936.6:c.535C>T MANE Select	NP_002927.2:p.Arg179Trp
NR_165465.1:n.492C>T
NR_165466.1:n.583-6C>T
NR_165467.1:n.777C>T
NR_165468.1:n.580C>T