Canonical Allele Identifier: CA41521533

Gene: RNASEH1

Linked Data

• dbSNP Id: rs949008914
• gnomAD v3: 2-3548871-G-A
• gnomAD v4: 2-3548871-G-A
• MyVariant Identifiers: chr2:g.3596461G>A (hg19) ; chr2:g.3548871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3548871G>A , CM000664.2:g.3548871G>A	GRCh38
NC_000002.11:g.3596461G>A , CM000664.1:g.3596461G>A	GRCh37
NC_000002.10:g.3574336G>A	NCBI36
NG_051310.1:g.14501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.565-147C>T MANE Select	ENSP00000313350.3:n.565-147C>T
ENST00000654051.1:c.565-147C>T	ENSP00000499604.1:n.565-147C>T
ENST00000658393.1:c.565-147C>T	ENSP00000499330.1:n.565-147C>T
ENST00000315212.3:c.565-147C>T	ENSP00000313350.3:n.565-147C>T
ENST00000436842.5:c.*671-147C>T	ENSP00000404926.1:n.*671-147C>T
NM_001286834.1:c.487-147C>T	NP_001273763.1:n.487-147C>T
NM_001286837.1:c.214-147C>T	NP_001273766.1:n.214-147C>T
NM_002936.4:c.565-147C>T	NP_002927.2:n.565-147C>T
XR_244873.1:n.672-151C>T
XR_922665.1:n.672-147C>T
XR_922666.1:n.672-147C>T
XR_922667.1:n.672-147C>T
XR_922668.1:n.672-147C>T
XR_922669.1:n.672-147C>T
XR_922670.1:n.672-147C>T
XR_922671.1:n.672-147C>T
XR_922672.1:n.672-147C>T
XR_922673.1:n.672-147C>T
XR_922674.1:n.672-147C>T
NM_001286834.2:c.487-147C>T	NP_001273763.1:n.487-147C>T
NM_001286837.2:c.214-147C>T	NP_001273766.1:n.214-147C>T
NM_002936.5:c.565-147C>T	NP_002927.2:n.565-147C>T
NR_148532.1:n.676-147C>T
NR_148533.1:n.676-151C>T
NR_148534.1:n.676-147C>T
NM_001286837.3:c.214-147C>T	NP_001273766.1:n.214-147C>T
NR_148532.2:n.638-147C>T
NR_148533.2:n.638-151C>T
NR_148534.2:n.638-147C>T
NM_001286834.3:c.487-147C>T	NP_001273763.1:n.487-147C>T
NM_001378271.1:c.565-147C>T	NP_001365200.1:n.565-147C>T
NM_001378272.1:c.562-147C>T	NP_001365201.1:n.562-147C>T
NM_001378273.1:c.550-147C>T	NP_001365202.1:n.550-147C>T
NM_002936.6:c.565-147C>T MANE Select	NP_002927.2:n.565-147C>T
NR_165465.1:n.522-147C>T
NR_165466.1:n.607-147C>T
NR_165467.1:n.807-147C>T
NR_165468.1:n.610-147C>T