Canonical Allele Identifier: CA424594372
Gene: RNASEH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.3596675C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3549085C>G , CM000664.2:g.3549085C>G GRCh38
NC_000002.11:g.3596675C>G , CM000664.1:g.3596675C>G GRCh37
NC_000002.10:g.3574550C>G NCBI36
NG_051310.1:g.14287G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315212.4:c.537G>C MANE Select ENSP00000313350.3:p.Arg179=
ENST00000654051.1:c.537G>C ENSP00000499604.1:p.Arg179=
ENST00000658393.1:c.537G>C ENSP00000499330.1:p.Arg179=
ENST00000315212.3:c.537G>C ENSP00000313350.3:p.Arg179=
ENST00000436842.5:c.*643G>C ENSP00000404926.1:n.*643G>C
NM_001286834.1:c.459G>C NP_001273763.1:p.Arg153=
NM_001286837.1:c.186G>C NP_001273766.1:p.Arg62=
NM_002936.4:c.537G>C NP_002927.2:p.Arg179=
XR_244873.1:n.644G>C
XR_922665.1:n.644G>C
XR_922666.1:n.644G>C
XR_922667.1:n.644G>C
XR_922668.1:n.644G>C
XR_922669.1:n.644G>C
XR_922670.1:n.644G>C
XR_922671.1:n.644G>C
XR_922672.1:n.644G>C
XR_922673.1:n.644G>C
XR_922674.1:n.644G>C
NM_001286834.2:c.459G>C NP_001273763.1:p.Arg153=
NM_001286837.2:c.186G>C NP_001273766.1:p.Arg62=
NM_002936.5:c.537G>C NP_002927.2:p.Arg179=
NR_148532.1:n.648G>C
NR_148533.1:n.648G>C
NR_148534.1:n.648G>C
NM_001286837.3:c.186G>C NP_001273766.1:p.Arg62=
NR_148532.2:n.610G>C
NR_148533.2:n.610G>C
NR_148534.2:n.610G>C
NM_001286834.3:c.459G>C NP_001273763.1:p.Arg153=
NM_001378271.1:c.537G>C NP_001365200.1:p.Arg179=
NM_001378272.1:c.534G>C NP_001365201.1:p.Arg178=
NM_001378273.1:c.522G>C NP_001365202.1:p.Arg174=
NM_002936.6:c.537G>C MANE Select NP_002927.2:p.Arg179=
NR_165465.1:n.494G>C
NR_165466.1:n.583-4G>C
NR_165467.1:n.779G>C
NR_165468.1:n.582G>C