Canonical Allele Identifier: CA6531055

Gene: ENDOU RPAP3-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47717623G>A , CM000674.2:g.47717623G>A	GRCh38
NC_000012.11:g.48111406G>A , CM000674.1:g.48111406G>A	GRCh37
NC_000012.10:g.46397673G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422538.8:c.277C>T (ENDOU) MANE Select	ENSP00000397679.3:p.Arg93Cys
ENST00000229003.7:c.154C>T (ENDOU)	ENSP00000229003.3:p.Arg52Cys
ENST00000422538.7:c.277C>T (ENDOU)	ENSP00000397679.3:p.Arg93Cys
ENST00000545824.2:c.88C>T (ENDOU)	ENSP00000445004.2:p.Arg30Cys
ENST00000551186.1:n.257C>T (ENDOU)
NM_001172439.1:c.277C>T (ENDOU)	NP_001165910.1:p.Arg93Cys
NM_001172440.1:c.88C>T (ENDOU)	NP_001165911.1:p.Arg30Cys
NM_006025.3:c.154C>T (ENDOU)	NP_006016.1:p.Arg52Cys
XR_944898.1:n.104-1524G>A (RPAP3-DT)
XR_944899.1:n.101-1524G>A (RPAP3-DT)
XR_944900.1:n.107-1524G>A (RPAP3-DT)
XR_944901.1:n.105-1524G>A (RPAP3-DT)
XR_944902.1:n.101-1524G>A (RPAP3-DT)
XR_001749110.2:n.104-1524G>A (RPAP3-DT)
XR_001749111.1:n.104-1524G>A (RPAP3-DT)
XR_001749112.1:n.104-1524G>A (RPAP3-DT)
XR_001749113.2:n.208G>A (RPAP3-DT)
XR_944898.2:n.104-1524G>A (RPAP3-DT)
XR_944900.2:n.106-1524G>A (RPAP3-DT)
XR_944901.2:n.104-1524G>A (RPAP3-DT)
XR_944902.3:n.102-1524G>A (RPAP3-DT)
NM_001172439.2:c.277C>T (ENDOU) MANE Select	NP_001165910.1:p.Arg93Cys
NM_001172440.2:c.88C>T (ENDOU)	NP_001165911.1:p.Arg30Cys
NM_006025.4:c.154C>T (ENDOU)	NP_006016.1:p.Arg52Cys