Canonical Allele Identifier: CA16042236

Gene: RNASEH1

Linked Data

• ClinVar Variation Id: 372199
• ClinVar RCV Id: RCV000412557
• dbSNP Id: rs1057517675
• gnomAD v4: 2-3549068-G-A
• MyVariant Identifiers: chr2:g.3596658G>A (hg19) ; chr2:g.3549068G>A (hg38)
• PubMed: PMID:26094573

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549068G>A , CM000664.2:g.3549068G>A	GRCh38
NC_000002.11:g.3596658G>A , CM000664.1:g.3596658G>A	GRCh37
NC_000002.10:g.3574533G>A	NCBI36
NG_051310.1:g.14304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.554C>T MANE Select	ENSP00000313350.3:p.Ala185Val
ENST00000654051.1:c.554C>T	ENSP00000499604.1:p.Ala185Val
ENST00000658393.1:c.554C>T	ENSP00000499330.1:p.Ala185Val
ENST00000315212.3:c.554C>T	ENSP00000313350.3:p.Ala185Val
ENST00000436842.5:c.*660C>T	ENSP00000404926.1:n.*660C>T
NM_001286834.1:c.476C>T	NP_001273763.1:p.Ala159Val
NM_001286837.1:c.203C>T	NP_001273766.1:p.Ala68Val
NM_002936.4:c.554C>T	NP_002927.2:p.Ala185Val
XR_244873.1:n.661C>T
XR_922665.1:n.661C>T
XR_922666.1:n.661C>T
XR_922667.1:n.661C>T
XR_922668.1:n.661C>T
XR_922669.1:n.661C>T
XR_922670.1:n.661C>T
XR_922671.1:n.661C>T
XR_922672.1:n.661C>T
XR_922673.1:n.661C>T
XR_922674.1:n.661C>T
NM_001286834.2:c.476C>T	NP_001273763.1:p.Ala159Val
NM_001286837.2:c.203C>T	NP_001273766.1:p.Ala68Val
NM_002936.5:c.554C>T	NP_002927.2:p.Ala185Val
NR_148532.1:n.665C>T
NR_148533.1:n.665C>T
NR_148534.1:n.665C>T
NM_001286837.3:c.203C>T	NP_001273766.1:p.Ala68Val
NR_148532.2:n.627C>T
NR_148533.2:n.627C>T
NR_148534.2:n.627C>T
NM_001286834.3:c.476C>T	NP_001273763.1:p.Ala159Val
NM_001378271.1:c.554C>T	NP_001365200.1:p.Ala185Val
NM_001378272.1:c.551C>T	NP_001365201.1:p.Ala184Val
NM_001378273.1:c.539C>T	NP_001365202.1:p.Ala180Val
NM_002936.6:c.554C>T MANE Select	NP_002927.2:p.Ala185Val
NR_165465.1:n.511C>T
NR_165466.1:n.596C>T
NR_165467.1:n.796C>T
NR_165468.1:n.599C>T