Canonical Allele Identifier: CA345736980

Gene: RNASEH1

Linked Data

• MyVariant Identifiers: chr2:g.3596700T>A (hg19) ; chr2:g.3549110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549110T>A , CM000664.2:g.3549110T>A	GRCh38
NC_000002.11:g.3596700T>A , CM000664.1:g.3596700T>A	GRCh37
NC_000002.10:g.3574575T>A	NCBI36
NG_051310.1:g.14262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.512A>T MANE Select	ENSP00000313350.3:p.Asn171Ile
ENST00000654051.1:c.512A>T	ENSP00000499604.1:p.Asn171Ile
ENST00000658393.1:c.512A>T	ENSP00000499330.1:p.Asn171Ile
ENST00000315212.3:c.512A>T	ENSP00000313350.3:p.Asn171Ile
ENST00000436842.5:c.*618A>T	ENSP00000404926.1:n.*618A>T
NM_001286834.1:c.434A>T	NP_001273763.1:p.Asn145Ile
NM_001286837.1:c.161A>T	NP_001273766.1:p.Asn54Ile
NM_002936.4:c.512A>T	NP_002927.2:p.Asn171Ile
XR_244873.1:n.619A>T
XR_922665.1:n.619A>T
XR_922666.1:n.619A>T
XR_922667.1:n.619A>T
XR_922668.1:n.619A>T
XR_922669.1:n.619A>T
XR_922670.1:n.619A>T
XR_922671.1:n.619A>T
XR_922672.1:n.619A>T
XR_922673.1:n.619A>T
XR_922674.1:n.619A>T
NM_001286834.2:c.434A>T	NP_001273763.1:p.Asn145Ile
NM_001286837.2:c.161A>T	NP_001273766.1:p.Asn54Ile
NM_002936.5:c.512A>T	NP_002927.2:p.Asn171Ile
NR_148532.1:n.623A>T
NR_148533.1:n.623A>T
NR_148534.1:n.623A>T
NM_001286837.3:c.161A>T	NP_001273766.1:p.Asn54Ile
NR_148532.2:n.585A>T
NR_148533.2:n.585A>T
NR_148534.2:n.585A>T
NM_001286834.3:c.434A>T	NP_001273763.1:p.Asn145Ile
NM_001378271.1:c.512A>T	NP_001365200.1:p.Asn171Ile
NM_001378272.1:c.509A>T	NP_001365201.1:p.Asn170Ile
NM_001378273.1:c.510-13A>T	NP_001365202.1:n.510-13A>T
NM_002936.6:c.512A>T MANE Select	NP_002927.2:p.Asn171Ile
NR_165465.1:n.469A>T
NR_165466.1:n.583-29A>T
NR_165467.1:n.754A>T
NR_165468.1:n.557A>T