Canonical Allele Identifier: CA2657701316
Gene: RNASEH1 HGNC NCBI

Linked Data

gnomAD v4: 2-3548946-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3548946T>G , CM000664.2:g.3548946T>G GRCh38
NC_000002.11:g.3596536T>G , CM000664.1:g.3596536T>G GRCh37
NC_000002.10:g.3574411T>G NCBI36
NG_051310.1:g.14426A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315212.4:c.564+112A>C MANE Select ENSP00000313350.3:n.564+112A>C
ENST00000654051.1:c.564+112A>C ENSP00000499604.1:n.564+112A>C
ENST00000658393.1:c.564+112A>C ENSP00000499330.1:n.564+112A>C
ENST00000315212.3:c.564+112A>C ENSP00000313350.3:n.564+112A>C
ENST00000436842.5:c.*670+112A>C ENSP00000404926.1:n.*670+112A>C
NM_001286834.1:c.486+112A>C NP_001273763.1:n.486+112A>C
NM_001286837.1:c.213+112A>C NP_001273766.1:n.213+112A>C
NM_002936.4:c.564+112A>C NP_002927.2:n.564+112A>C
XR_244873.1:n.671+112A>C
XR_922665.1:n.671+112A>C
XR_922666.1:n.671+112A>C
XR_922667.1:n.671+112A>C
XR_922668.1:n.671+112A>C
XR_922669.1:n.671+112A>C
XR_922670.1:n.671+112A>C
XR_922671.1:n.671+112A>C
XR_922672.1:n.671+112A>C
XR_922673.1:n.671+112A>C
XR_922674.1:n.671+112A>C
NM_001286834.2:c.486+112A>C NP_001273763.1:n.486+112A>C
NM_001286837.2:c.213+112A>C NP_001273766.1:n.213+112A>C
NM_002936.5:c.564+112A>C NP_002927.2:n.564+112A>C
NR_148532.1:n.675+112A>C
NR_148533.1:n.675+112A>C
NR_148534.1:n.675+112A>C
NM_001286837.3:c.213+112A>C NP_001273766.1:n.213+112A>C
NR_148532.2:n.637+112A>C
NR_148533.2:n.637+112A>C
NR_148534.2:n.637+112A>C
NM_001286834.3:c.486+112A>C NP_001273763.1:n.486+112A>C
NM_001378271.1:c.564+112A>C NP_001365200.1:n.564+112A>C
NM_001378272.1:c.561+112A>C NP_001365201.1:n.561+112A>C
NM_001378273.1:c.549+112A>C NP_001365202.1:n.549+112A>C
NM_002936.6:c.564+112A>C MANE Select NP_002927.2:n.564+112A>C
NR_165465.1:n.521+112A>C
NR_165466.1:n.606+112A>C
NR_165467.1:n.806+112A>C
NR_165468.1:n.609+112A>C