Canonical Allele Identifier: CA345736881

Gene: RNASEH1

Linked Data

• MyVariant Identifiers: chr2:g.3596653T>G (hg19) ; chr2:g.3549063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549063T>G , CM000664.2:g.3549063T>G	GRCh38
NC_000002.11:g.3596653T>G , CM000664.1:g.3596653T>G	GRCh37
NC_000002.10:g.3574528T>G	NCBI36
NG_051310.1:g.14309A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.559A>C MANE Select	ENSP00000313350.3:p.Ile187Leu
ENST00000654051.1:c.559A>C	ENSP00000499604.1:p.Ile187Leu
ENST00000658393.1:c.559A>C	ENSP00000499330.1:p.Ile187Leu
ENST00000315212.3:c.559A>C	ENSP00000313350.3:p.Ile187Leu
ENST00000436842.5:c.*665A>C	ENSP00000404926.1:n.*665A>C
NM_001286834.1:c.481A>C	NP_001273763.1:p.Ile161Leu
NM_001286837.1:c.208A>C	NP_001273766.1:p.Ile70Leu
NM_002936.4:c.559A>C	NP_002927.2:p.Ile187Leu
XR_244873.1:n.666A>C
XR_922665.1:n.666A>C
XR_922666.1:n.666A>C
XR_922667.1:n.666A>C
XR_922668.1:n.666A>C
XR_922669.1:n.666A>C
XR_922670.1:n.666A>C
XR_922671.1:n.666A>C
XR_922672.1:n.666A>C
XR_922673.1:n.666A>C
XR_922674.1:n.666A>C
NM_001286834.2:c.481A>C	NP_001273763.1:p.Ile161Leu
NM_001286837.2:c.208A>C	NP_001273766.1:p.Ile70Leu
NM_002936.5:c.559A>C	NP_002927.2:p.Ile187Leu
NR_148532.1:n.670A>C
NR_148533.1:n.670A>C
NR_148534.1:n.670A>C
NM_001286837.3:c.208A>C	NP_001273766.1:p.Ile70Leu
NR_148532.2:n.632A>C
NR_148533.2:n.632A>C
NR_148534.2:n.632A>C
NM_001286834.3:c.481A>C	NP_001273763.1:p.Ile161Leu
NM_001378271.1:c.559A>C	NP_001365200.1:p.Ile187Leu
NM_001378272.1:c.556A>C	NP_001365201.1:p.Ile186Leu
NM_001378273.1:c.544A>C	NP_001365202.1:p.Ile182Leu
NM_002936.6:c.559A>C MANE Select	NP_002927.2:p.Ile187Leu
NR_165465.1:n.516A>C
NR_165466.1:n.601A>C
NR_165467.1:n.801A>C
NR_165468.1:n.604A>C