Canonical Allele Identifier: CA1027000901
Gene: RNASEH1 HGNC NCBI

Linked Data

gnomAD v3: 2-3548977-G-A
gnomAD v4: 2-3548977-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3548977G>A , CM000664.2:g.3548977G>A GRCh38
NC_000002.11:g.3596567G>A , CM000664.1:g.3596567G>A GRCh37
NC_000002.10:g.3574442G>A NCBI36
NG_051310.1:g.14395C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000315212.4:c.564+81C>T MANE Select ENSP00000313350.3:n.564+81C>T
ENST00000654051.1:c.564+81C>T ENSP00000499604.1:n.564+81C>T
ENST00000658393.1:c.564+81C>T ENSP00000499330.1:n.564+81C>T
ENST00000315212.3:c.564+81C>T ENSP00000313350.3:n.564+81C>T
ENST00000436842.5:c.*670+81C>T ENSP00000404926.1:n.*670+81C>T
NM_001286834.1:c.486+81C>T NP_001273763.1:n.486+81C>T
NM_001286837.1:c.213+81C>T NP_001273766.1:n.213+81C>T
NM_002936.4:c.564+81C>T NP_002927.2:n.564+81C>T
XR_244873.1:n.671+81C>T
XR_922665.1:n.671+81C>T
XR_922666.1:n.671+81C>T
XR_922667.1:n.671+81C>T
XR_922668.1:n.671+81C>T
XR_922669.1:n.671+81C>T
XR_922670.1:n.671+81C>T
XR_922671.1:n.671+81C>T
XR_922672.1:n.671+81C>T
XR_922673.1:n.671+81C>T
XR_922674.1:n.671+81C>T
NM_001286834.2:c.486+81C>T NP_001273763.1:n.486+81C>T
NM_001286837.2:c.213+81C>T NP_001273766.1:n.213+81C>T
NM_002936.5:c.564+81C>T NP_002927.2:n.564+81C>T
NR_148532.1:n.675+81C>T
NR_148533.1:n.675+81C>T
NR_148534.1:n.675+81C>T
NM_001286837.3:c.213+81C>T NP_001273766.1:n.213+81C>T
NR_148532.2:n.637+81C>T
NR_148533.2:n.637+81C>T
NR_148534.2:n.637+81C>T
NM_001286834.3:c.486+81C>T NP_001273763.1:n.486+81C>T
NM_001378271.1:c.564+81C>T NP_001365200.1:n.564+81C>T
NM_001378272.1:c.561+81C>T NP_001365201.1:n.561+81C>T
NM_001378273.1:c.549+81C>T NP_001365202.1:n.549+81C>T
NM_002936.6:c.564+81C>T MANE Select NP_002927.2:n.564+81C>T
NR_165465.1:n.521+81C>T
NR_165466.1:n.606+81C>T
NR_165467.1:n.806+81C>T
NR_165468.1:n.609+81C>T