Canonical Allele Identifier: CA345736885

Gene: RNASEH1

Linked Data

• MyVariant Identifiers: chr2:g.3596655T>A (hg19) ; chr2:g.3549065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549065T>A , CM000664.2:g.3549065T>A	GRCh38
NC_000002.11:g.3596655T>A , CM000664.1:g.3596655T>A	GRCh37
NC_000002.10:g.3574530T>A	NCBI36
NG_051310.1:g.14307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.557A>T MANE Select	ENSP00000313350.3:p.Glu186Val
ENST00000654051.1:c.557A>T	ENSP00000499604.1:p.Glu186Val
ENST00000658393.1:c.557A>T	ENSP00000499330.1:p.Glu186Val
ENST00000315212.3:c.557A>T	ENSP00000313350.3:p.Glu186Val
ENST00000436842.5:c.*663A>T	ENSP00000404926.1:n.*663A>T
NM_001286834.1:c.479A>T	NP_001273763.1:p.Glu160Val
NM_001286837.1:c.206A>T	NP_001273766.1:p.Glu69Val
NM_002936.4:c.557A>T	NP_002927.2:p.Glu186Val
XR_244873.1:n.664A>T
XR_922665.1:n.664A>T
XR_922666.1:n.664A>T
XR_922667.1:n.664A>T
XR_922668.1:n.664A>T
XR_922669.1:n.664A>T
XR_922670.1:n.664A>T
XR_922671.1:n.664A>T
XR_922672.1:n.664A>T
XR_922673.1:n.664A>T
XR_922674.1:n.664A>T
NM_001286834.2:c.479A>T	NP_001273763.1:p.Glu160Val
NM_001286837.2:c.206A>T	NP_001273766.1:p.Glu69Val
NM_002936.5:c.557A>T	NP_002927.2:p.Glu186Val
NR_148532.1:n.668A>T
NR_148533.1:n.668A>T
NR_148534.1:n.668A>T
NM_001286837.3:c.206A>T	NP_001273766.1:p.Glu69Val
NR_148532.2:n.630A>T
NR_148533.2:n.630A>T
NR_148534.2:n.630A>T
NM_001286834.3:c.479A>T	NP_001273763.1:p.Glu160Val
NM_001378271.1:c.557A>T	NP_001365200.1:p.Glu186Val
NM_001378272.1:c.554A>T	NP_001365201.1:p.Glu185Val
NM_001378273.1:c.542A>T	NP_001365202.1:p.Glu181Val
NM_002936.6:c.557A>T MANE Select	NP_002927.2:p.Glu186Val
NR_165465.1:n.514A>T
NR_165466.1:n.599A>T
NR_165467.1:n.799A>T
NR_165468.1:n.602A>T