Canonical Allele Identifier: CA1516262

Gene: RNASEH1

Linked Data

• ClinVar Variation Id: 372197
• ClinVar RCV Id: RCV000412621 ; RCV001566031
• dbSNP Id: rs766294940
• ExAC: 2:3598048 C / T
• gnomAD v2: 2-3598048-C-T
• gnomAD v3: 2-3550458-C-T
• gnomAD v4: 2-3550458-C-T
• MyVariant Identifiers: chr2:g.3598048C>T (hg19) ; chr2:g.3550458C>T (hg38)
• PubMed: PMID:26094573

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3550458C>T , CM000664.2:g.3550458C>T	GRCh38
NC_000002.11:g.3598048C>T , CM000664.1:g.3598048C>T	GRCh37
NC_000002.10:g.3575923C>T	NCBI36
NG_051310.1:g.12914G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000315212.4:c.424G>A MANE Select	ENSP00000313350.3:p.Val142Ile
ENST00000654051.1:c.424G>A	ENSP00000499604.1:p.Val142Ile
ENST00000658393.1:c.424G>A	ENSP00000499330.1:p.Val142Ile
ENST00000315212.3:c.424G>A	ENSP00000313350.3:p.Val142Ile
ENST00000436842.5:c.*530G>A	ENSP00000404926.1:n.*530G>A
ENST00000454734.1:c.*461G>A	ENSP00000411646.1:n.*461G>A
ENST00000464986.5:n.180G>A
NM_001286834.1:c.346G>A	NP_001273763.1:p.Val116Ile
NM_001286837.1:c.73G>A	NP_001273766.1:p.Val25Ile
NM_002936.4:c.424G>A	NP_002927.2:p.Val142Ile
XR_244873.1:n.531G>A
XR_922665.1:n.531G>A
XR_922666.1:n.531G>A
XR_922667.1:n.531G>A
XR_922668.1:n.531G>A
XR_922669.1:n.531G>A
XR_922670.1:n.531G>A
XR_922671.1:n.531G>A
XR_922672.1:n.531G>A
XR_922673.1:n.531G>A
XR_922674.1:n.531G>A
NM_001286834.2:c.346G>A	NP_001273763.1:p.Val116Ile
NM_001286837.2:c.73G>A	NP_001273766.1:p.Val25Ile
NM_002936.5:c.424G>A	NP_002927.2:p.Val142Ile
NR_148532.1:n.535G>A
NR_148533.1:n.535G>A
NR_148534.1:n.535G>A
NM_001286837.3:c.73G>A	NP_001273766.1:p.Val25Ile
NR_148532.2:n.497G>A
NR_148533.2:n.497G>A
NR_148534.2:n.497G>A
NM_001286834.3:c.346G>A	NP_001273763.1:p.Val116Ile
NM_001378271.1:c.424G>A	NP_001365200.1:p.Val142Ile
NM_001378272.1:c.421G>A	NP_001365201.1:p.Val141Ile
NM_001378273.1:c.424G>A	NP_001365202.1:p.Val142Ile
NM_002936.6:c.424G>A MANE Select	NP_002927.2:p.Val142Ile
NR_165465.1:n.381G>A
NR_165466.1:n.497G>A
NR_165467.1:n.666G>A
NR_165468.1:n.469G>A