Canonical Allele Identifier: CA1516222

Gene: RNASEH1

Linked Data

• dbSNP Id: rs764005144
• ExAC: 2:3596715 A / G
• gnomAD v2: 2-3596715-A-G
• gnomAD v4: 2-3549125-A-G
• MyVariant Identifiers: chr2:g.3596715A>G (hg19) ; chr2:g.3549125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549125A>G , CM000664.2:g.3549125A>G	GRCh38
NC_000002.11:g.3596715A>G , CM000664.1:g.3596715A>G	GRCh37
NC_000002.10:g.3574590A>G	NCBI36
NG_051310.1:g.14247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.510-13T>C MANE Select	ENSP00000313350.3:n.510-13T>C
ENST00000654051.1:c.510-13T>C	ENSP00000499604.1:n.510-13T>C
ENST00000658393.1:c.510-13T>C	ENSP00000499330.1:n.510-13T>C
ENST00000315212.3:c.510-13T>C	ENSP00000313350.3:n.510-13T>C
ENST00000436842.5:c.*616-13T>C	ENSP00000404926.1:n.*616-13T>C
NM_001286834.1:c.432-13T>C	NP_001273763.1:n.432-13T>C
NM_001286837.1:c.159-13T>C	NP_001273766.1:n.159-13T>C
NM_002936.4:c.510-13T>C	NP_002927.2:n.510-13T>C
XR_244873.1:n.617-13T>C
XR_922665.1:n.617-13T>C
XR_922666.1:n.617-13T>C
XR_922667.1:n.617-13T>C
XR_922668.1:n.617-13T>C
XR_922669.1:n.617-13T>C
XR_922670.1:n.617-13T>C
XR_922671.1:n.617-13T>C
XR_922672.1:n.617-13T>C
XR_922673.1:n.617-13T>C
XR_922674.1:n.617-13T>C
NM_001286834.2:c.432-13T>C	NP_001273763.1:n.432-13T>C
NM_001286837.2:c.159-13T>C	NP_001273766.1:n.159-13T>C
NM_002936.5:c.510-13T>C	NP_002927.2:n.510-13T>C
NR_148532.1:n.621-13T>C
NR_148533.1:n.621-13T>C
NR_148534.1:n.621-13T>C
NM_001286837.3:c.159-13T>C	NP_001273766.1:n.159-13T>C
NR_148532.2:n.583-13T>C
NR_148533.2:n.583-13T>C
NR_148534.2:n.583-13T>C
NM_001286834.3:c.432-13T>C	NP_001273763.1:n.432-13T>C
NM_001378271.1:c.510-13T>C	NP_001365200.1:n.510-13T>C
NM_001378272.1:c.507-13T>C	NP_001365201.1:n.507-13T>C
NM_001378273.1:c.510-28T>C	NP_001365202.1:n.510-28T>C
NM_002936.6:c.510-13T>C MANE Select	NP_002927.2:n.510-13T>C
NR_165465.1:n.467-13T>C
NR_165466.1:n.583-44T>C
NR_165467.1:n.752-13T>C
NR_165468.1:n.555-13T>C