Canonical Allele Identifier: CA345736871

Gene: RNASEH1

Linked Data

• gnomAD v4: 2-3549059-T-A
• MyVariant Identifiers: chr2:g.3596649T>A (hg19) ; chr2:g.3549059T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549059T>A , CM000664.2:g.3549059T>A	GRCh38
NC_000002.11:g.3596649T>A , CM000664.1:g.3596649T>A	GRCh37
NC_000002.10:g.3574524T>A	NCBI36
NG_051310.1:g.14313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.563A>T MANE Select	ENSP00000313350.3:p.His188Leu
ENST00000654051.1:c.563A>T	ENSP00000499604.1:p.His188Leu
ENST00000658393.1:c.563A>T	ENSP00000499330.1:p.His188Leu
ENST00000315212.3:c.563A>T	ENSP00000313350.3:p.His188Leu
ENST00000436842.5:c.*669A>T	ENSP00000404926.1:n.*669A>T
NM_001286834.1:c.485A>T	NP_001273763.1:p.His162Leu
NM_001286837.1:c.212A>T	NP_001273766.1:p.His71Leu
NM_002936.4:c.563A>T	NP_002927.2:p.His188Leu
XR_244873.1:n.670A>T
XR_922665.1:n.670A>T
XR_922666.1:n.670A>T
XR_922667.1:n.670A>T
XR_922668.1:n.670A>T
XR_922669.1:n.670A>T
XR_922670.1:n.670A>T
XR_922671.1:n.670A>T
XR_922672.1:n.670A>T
XR_922673.1:n.670A>T
XR_922674.1:n.670A>T
NM_001286834.2:c.485A>T	NP_001273763.1:p.His162Leu
NM_001286837.2:c.212A>T	NP_001273766.1:p.His71Leu
NM_002936.5:c.563A>T	NP_002927.2:p.His188Leu
NR_148532.1:n.674A>T
NR_148533.1:n.674A>T
NR_148534.1:n.674A>T
NM_001286837.3:c.212A>T	NP_001273766.1:p.His71Leu
NR_148532.2:n.636A>T
NR_148533.2:n.636A>T
NR_148534.2:n.636A>T
NM_001286834.3:c.485A>T	NP_001273763.1:p.His162Leu
NM_001378271.1:c.563A>T	NP_001365200.1:p.His188Leu
NM_001378272.1:c.560A>T	NP_001365201.1:p.His187Leu
NM_001378273.1:c.548A>T	NP_001365202.1:p.His183Leu
NM_002936.6:c.563A>T MANE Select	NP_002927.2:p.His188Leu
NR_165465.1:n.520A>T
NR_165466.1:n.605A>T
NR_165467.1:n.805A>T
NR_165468.1:n.608A>T