Canonical Allele Identifier: CA1516219

Gene: RNASEH1

Linked Data

• dbSNP Id: rs147814652
• ExAC: 2:3596692 T / C
• gnomAD v2: 2-3596692-T-C
• gnomAD v3: 2-3549102-T-C
• gnomAD v4: 2-3549102-T-C
• MyVariant Identifiers: chr2:g.3596692T>C (hg19) ; chr2:g.3549102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549102T>C , CM000664.2:g.3549102T>C	GRCh38
NC_000002.11:g.3596692T>C , CM000664.1:g.3596692T>C	GRCh37
NC_000002.10:g.3574567T>C	NCBI36
NG_051310.1:g.14270A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.520A>G MANE Select	ENSP00000313350.3:p.Ile174Val
ENST00000654051.1:c.520A>G	ENSP00000499604.1:p.Ile174Val
ENST00000658393.1:c.520A>G	ENSP00000499330.1:p.Ile174Val
ENST00000315212.3:c.520A>G	ENSP00000313350.3:p.Ile174Val
ENST00000436842.5:c.*626A>G	ENSP00000404926.1:n.*626A>G
NM_001286834.1:c.442A>G	NP_001273763.1:p.Ile148Val
NM_001286837.1:c.169A>G	NP_001273766.1:p.Ile57Val
NM_002936.4:c.520A>G	NP_002927.2:p.Ile174Val
XR_244873.1:n.627A>G
XR_922665.1:n.627A>G
XR_922666.1:n.627A>G
XR_922667.1:n.627A>G
XR_922668.1:n.627A>G
XR_922669.1:n.627A>G
XR_922670.1:n.627A>G
XR_922671.1:n.627A>G
XR_922672.1:n.627A>G
XR_922673.1:n.627A>G
XR_922674.1:n.627A>G
NM_001286834.2:c.442A>G	NP_001273763.1:p.Ile148Val
NM_001286837.2:c.169A>G	NP_001273766.1:p.Ile57Val
NM_002936.5:c.520A>G	NP_002927.2:p.Ile174Val
NR_148532.1:n.631A>G
NR_148533.1:n.631A>G
NR_148534.1:n.631A>G
NM_001286837.3:c.169A>G	NP_001273766.1:p.Ile57Val
NR_148532.2:n.593A>G
NR_148533.2:n.593A>G
NR_148534.2:n.593A>G
NM_001286834.3:c.442A>G	NP_001273763.1:p.Ile148Val
NM_001378271.1:c.520A>G	NP_001365200.1:p.Ile174Val
NM_001378272.1:c.517A>G	NP_001365201.1:p.Ile173Val
NM_001378273.1:c.510-5A>G	NP_001365202.1:n.510-5A>G
NM_002936.6:c.520A>G MANE Select	NP_002927.2:p.Ile174Val
NR_165465.1:n.477A>G
NR_165466.1:n.583-21A>G
NR_165467.1:n.762A>G
NR_165468.1:n.565A>G