Canonical Allele Identifier: CA2657701322
Gene: RNASEH1 HGNC NCBI

Linked Data

gnomAD v4: 2-3548954-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3548954C>A , CM000664.2:g.3548954C>A GRCh38
NC_000002.11:g.3596544C>A , CM000664.1:g.3596544C>A GRCh37
NC_000002.10:g.3574419C>A NCBI36
NG_051310.1:g.14418G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315212.4:c.564+104G>T MANE Select ENSP00000313350.3:n.564+104G>T
ENST00000654051.1:c.564+104G>T ENSP00000499604.1:n.564+104G>T
ENST00000658393.1:c.564+104G>T ENSP00000499330.1:n.564+104G>T
ENST00000315212.3:c.564+104G>T ENSP00000313350.3:n.564+104G>T
ENST00000436842.5:c.*670+104G>T ENSP00000404926.1:n.*670+104G>T
NM_001286834.1:c.486+104G>T NP_001273763.1:n.486+104G>T
NM_001286837.1:c.213+104G>T NP_001273766.1:n.213+104G>T
NM_002936.4:c.564+104G>T NP_002927.2:n.564+104G>T
XR_244873.1:n.671+104G>T
XR_922665.1:n.671+104G>T
XR_922666.1:n.671+104G>T
XR_922667.1:n.671+104G>T
XR_922668.1:n.671+104G>T
XR_922669.1:n.671+104G>T
XR_922670.1:n.671+104G>T
XR_922671.1:n.671+104G>T
XR_922672.1:n.671+104G>T
XR_922673.1:n.671+104G>T
XR_922674.1:n.671+104G>T
NM_001286834.2:c.486+104G>T NP_001273763.1:n.486+104G>T
NM_001286837.2:c.213+104G>T NP_001273766.1:n.213+104G>T
NM_002936.5:c.564+104G>T NP_002927.2:n.564+104G>T
NR_148532.1:n.675+104G>T
NR_148533.1:n.675+104G>T
NR_148534.1:n.675+104G>T
NM_001286837.3:c.213+104G>T NP_001273766.1:n.213+104G>T
NR_148532.2:n.637+104G>T
NR_148533.2:n.637+104G>T
NR_148534.2:n.637+104G>T
NM_001286834.3:c.486+104G>T NP_001273763.1:n.486+104G>T
NM_001378271.1:c.564+104G>T NP_001365200.1:n.564+104G>T
NM_001378272.1:c.561+104G>T NP_001365201.1:n.561+104G>T
NM_001378273.1:c.549+104G>T NP_001365202.1:n.549+104G>T
NM_002936.6:c.564+104G>T MANE Select NP_002927.2:n.564+104G>T
NR_165465.1:n.521+104G>T
NR_165466.1:n.606+104G>T
NR_165467.1:n.806+104G>T
NR_165468.1:n.609+104G>T