Canonical Allele Identifier: CA345736978

Gene: RNASEH1

Linked Data

• gnomAD v4: 2-3549109-A-C
• MyVariant Identifiers: chr2:g.3596699A>C (hg19) ; chr2:g.3549109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549109A>C , CM000664.2:g.3549109A>C	GRCh38
NC_000002.11:g.3596699A>C , CM000664.1:g.3596699A>C	GRCh37
NC_000002.10:g.3574574A>C	NCBI36
NG_051310.1:g.14263T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.513T>G MANE Select	ENSP00000313350.3:p.Asn171Lys
ENST00000654051.1:c.513T>G	ENSP00000499604.1:p.Asn171Lys
ENST00000658393.1:c.513T>G	ENSP00000499330.1:p.Asn171Lys
ENST00000315212.3:c.513T>G	ENSP00000313350.3:p.Asn171Lys
ENST00000436842.5:c.*619T>G	ENSP00000404926.1:n.*619T>G
NM_001286834.1:c.435T>G	NP_001273763.1:p.Asn145Lys
NM_001286837.1:c.162T>G	NP_001273766.1:p.Asn54Lys
NM_002936.4:c.513T>G	NP_002927.2:p.Asn171Lys
XR_244873.1:n.620T>G
XR_922665.1:n.620T>G
XR_922666.1:n.620T>G
XR_922667.1:n.620T>G
XR_922668.1:n.620T>G
XR_922669.1:n.620T>G
XR_922670.1:n.620T>G
XR_922671.1:n.620T>G
XR_922672.1:n.620T>G
XR_922673.1:n.620T>G
XR_922674.1:n.620T>G
NM_001286834.2:c.435T>G	NP_001273763.1:p.Asn145Lys
NM_001286837.2:c.162T>G	NP_001273766.1:p.Asn54Lys
NM_002936.5:c.513T>G	NP_002927.2:p.Asn171Lys
NR_148532.1:n.624T>G
NR_148533.1:n.624T>G
NR_148534.1:n.624T>G
NM_001286837.3:c.162T>G	NP_001273766.1:p.Asn54Lys
NR_148532.2:n.586T>G
NR_148533.2:n.586T>G
NR_148534.2:n.586T>G
NM_001286834.3:c.435T>G	NP_001273763.1:p.Asn145Lys
NM_001378271.1:c.513T>G	NP_001365200.1:p.Asn171Lys
NM_001378272.1:c.510T>G	NP_001365201.1:p.Asn170Lys
NM_001378273.1:c.510-12T>G	NP_001365202.1:n.510-12T>G
NM_002936.6:c.513T>G MANE Select	NP_002927.2:p.Asn171Lys
NR_165465.1:n.470T>G
NR_165466.1:n.583-28T>G
NR_165467.1:n.755T>G
NR_165468.1:n.558T>G