Canonical Allele Identifier: CA424594397

Gene: RNASEH1

Linked Data

• dbSNP Id: rs1283834618
• gnomAD v3: 2-3549091-A-C
• gnomAD v4: 2-3549091-A-C
• MyVariant Identifiers: chr2:g.3596681A>C (hg19) ; chr2:g.3549091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549091A>C , CM000664.2:g.3549091A>C	GRCh38
NC_000002.11:g.3596681A>C , CM000664.1:g.3596681A>C	GRCh37
NC_000002.10:g.3574556A>C	NCBI36
NG_051310.1:g.14281T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.531T>G MANE Select	ENSP00000313350.3:p.Pro177=
ENST00000654051.1:c.531T>G	ENSP00000499604.1:p.Pro177=
ENST00000658393.1:c.531T>G	ENSP00000499330.1:p.Pro177=
ENST00000315212.3:c.531T>G	ENSP00000313350.3:p.Pro177=
ENST00000436842.5:c.*637T>G	ENSP00000404926.1:n.*637T>G
NM_001286834.1:c.453T>G	NP_001273763.1:p.Pro151=
NM_001286837.1:c.180T>G	NP_001273766.1:p.Pro60=
NM_002936.4:c.531T>G	NP_002927.2:p.Pro177=
XR_244873.1:n.638T>G
XR_922665.1:n.638T>G
XR_922666.1:n.638T>G
XR_922667.1:n.638T>G
XR_922668.1:n.638T>G
XR_922669.1:n.638T>G
XR_922670.1:n.638T>G
XR_922671.1:n.638T>G
XR_922672.1:n.638T>G
XR_922673.1:n.638T>G
XR_922674.1:n.638T>G
NM_001286834.2:c.453T>G	NP_001273763.1:p.Pro151=
NM_001286837.2:c.180T>G	NP_001273766.1:p.Pro60=
NM_002936.5:c.531T>G	NP_002927.2:p.Pro177=
NR_148532.1:n.642T>G
NR_148533.1:n.642T>G
NR_148534.1:n.642T>G
NM_001286837.3:c.180T>G	NP_001273766.1:p.Pro60=
NR_148532.2:n.604T>G
NR_148533.2:n.604T>G
NR_148534.2:n.604T>G
NM_001286834.3:c.453T>G	NP_001273763.1:p.Pro151=
NM_001378271.1:c.531T>G	NP_001365200.1:p.Pro177=
NM_001378272.1:c.528T>G	NP_001365201.1:p.Pro176=
NM_001378273.1:c.516T>G	NP_001365202.1:p.Pro172=
NM_002936.6:c.531T>G MANE Select	NP_002927.2:p.Pro177=
NR_165465.1:n.488T>G
NR_165466.1:n.583-10T>G
NR_165467.1:n.773T>G
NR_165468.1:n.576T>G