Canonical Allele Identifier: CA345736948

Gene: RNASEH1

Linked Data

• MyVariant Identifiers: chr2:g.3596685A>G (hg19) ; chr2:g.3549095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549095A>G , CM000664.2:g.3549095A>G	GRCh38
NC_000002.11:g.3596685A>G , CM000664.1:g.3596685A>G	GRCh37
NC_000002.10:g.3574560A>G	NCBI36
NG_051310.1:g.14277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.527T>C MANE Select	ENSP00000313350.3:p.Leu176Pro
ENST00000654051.1:c.527T>C	ENSP00000499604.1:p.Leu176Pro
ENST00000658393.1:c.527T>C	ENSP00000499330.1:p.Leu176Pro
ENST00000315212.3:c.527T>C	ENSP00000313350.3:p.Leu176Pro
ENST00000436842.5:c.*633T>C	ENSP00000404926.1:n.*633T>C
NM_001286834.1:c.449T>C	NP_001273763.1:p.Leu150Pro
NM_001286837.1:c.176T>C	NP_001273766.1:p.Leu59Pro
NM_002936.4:c.527T>C	NP_002927.2:p.Leu176Pro
XR_244873.1:n.634T>C
XR_922665.1:n.634T>C
XR_922666.1:n.634T>C
XR_922667.1:n.634T>C
XR_922668.1:n.634T>C
XR_922669.1:n.634T>C
XR_922670.1:n.634T>C
XR_922671.1:n.634T>C
XR_922672.1:n.634T>C
XR_922673.1:n.634T>C
XR_922674.1:n.634T>C
NM_001286834.2:c.449T>C	NP_001273763.1:p.Leu150Pro
NM_001286837.2:c.176T>C	NP_001273766.1:p.Leu59Pro
NM_002936.5:c.527T>C	NP_002927.2:p.Leu176Pro
NR_148532.1:n.638T>C
NR_148533.1:n.638T>C
NR_148534.1:n.638T>C
NM_001286837.3:c.176T>C	NP_001273766.1:p.Leu59Pro
NR_148532.2:n.600T>C
NR_148533.2:n.600T>C
NR_148534.2:n.600T>C
NM_001286834.3:c.449T>C	NP_001273763.1:p.Leu150Pro
NM_001378271.1:c.527T>C	NP_001365200.1:p.Leu176Pro
NM_001378272.1:c.524T>C	NP_001365201.1:p.Leu175Pro
NM_001378273.1:c.512T>C	NP_001365202.1:p.Leu171Pro
NM_002936.6:c.527T>C MANE Select	NP_002927.2:p.Leu176Pro
NR_165465.1:n.484T>C
NR_165466.1:n.583-14T>C
NR_165467.1:n.769T>C
NR_165468.1:n.572T>C