Canonical Allele Identifier: CA345736924

Gene: RNASEH1

Linked Data

• MyVariant Identifiers: chr2:g.3596672C>A (hg19) ; chr2:g.3549082C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549082C>A , CM000664.2:g.3549082C>A	GRCh38
NC_000002.11:g.3596672C>A , CM000664.1:g.3596672C>A	GRCh37
NC_000002.10:g.3574547C>A	NCBI36
NG_051310.1:g.14290G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000315212.4:c.540G>T MANE Select	ENSP00000313350.3:p.Gln180His
ENST00000654051.1:c.540G>T	ENSP00000499604.1:p.Gln180His
ENST00000658393.1:c.540G>T	ENSP00000499330.1:p.Gln180His
ENST00000315212.3:c.540G>T	ENSP00000313350.3:p.Gln180His
ENST00000436842.5:c.*646G>T	ENSP00000404926.1:n.*646G>T
NM_001286834.1:c.462G>T	NP_001273763.1:p.Gln154His
NM_001286837.1:c.189G>T	NP_001273766.1:p.Gln63His
NM_002936.4:c.540G>T	NP_002927.2:p.Gln180His
XR_244873.1:n.647G>T
XR_922665.1:n.647G>T
XR_922666.1:n.647G>T
XR_922667.1:n.647G>T
XR_922668.1:n.647G>T
XR_922669.1:n.647G>T
XR_922670.1:n.647G>T
XR_922671.1:n.647G>T
XR_922672.1:n.647G>T
XR_922673.1:n.647G>T
XR_922674.1:n.647G>T
NM_001286834.2:c.462G>T	NP_001273763.1:p.Gln154His
NM_001286837.2:c.189G>T	NP_001273766.1:p.Gln63His
NM_002936.5:c.540G>T	NP_002927.2:p.Gln180His
NR_148532.1:n.651G>T
NR_148533.1:n.651G>T
NR_148534.1:n.651G>T
NM_001286837.3:c.189G>T	NP_001273766.1:p.Gln63His
NR_148532.2:n.613G>T
NR_148533.2:n.613G>T
NR_148534.2:n.613G>T
NM_001286834.3:c.462G>T	NP_001273763.1:p.Gln154His
NM_001378271.1:c.540G>T	NP_001365200.1:p.Gln180His
NM_001378272.1:c.537G>T	NP_001365201.1:p.Gln179His
NM_001378273.1:c.525G>T	NP_001365202.1:p.Gln175His
NM_002936.6:c.540G>T MANE Select	NP_002927.2:p.Gln180His
NR_165465.1:n.497G>T
NR_165466.1:n.583-1G>T
NR_165467.1:n.782G>T
NR_165468.1:n.585G>T