Canonical Allele Identifier: CA2648000

Gene: XRN1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142356991T>C , CM000665.2:g.142356991T>C	GRCh38
NC_000003.11:g.142075833T>C , CM000665.1:g.142075833T>C	GRCh37
NC_000003.10:g.143558523T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392981.7:c.3593A>G MANE Select	ENSP00000376707.2:p.His1198Arg
ENST00000264951.8:c.3593A>G	ENSP00000264951.4:p.His1198Arg
ENST00000392981.6:c.3593A>G	ENSP00000376707.2:p.His1198Arg
ENST00000467077.1:n.493A>G
ENST00000498077.6:c.1989A>G
NM_001282857.1:c.3593A>G	NP_001269786.1:p.His1198Arg
NM_019001.4:c.3593A>G	NP_061874.3:p.His1198Arg
XM_011512919.1:c.3593A>G	XP_011511221.1:p.His1198Arg
XM_011512920.1:c.3593A>G	XP_011511222.1:p.His1198Arg
XM_011512921.1:c.3176A>G	XP_011511223.1:p.His1059Arg
XM_011512922.1:c.2963A>G	XP_011511224.1:p.His988Arg
XM_011512923.1:c.3593A>G	XP_011511225.1:p.His1198Arg
XM_011512919.2:c.3593A>G	XP_011511221.1:p.His1198Arg
XM_011512920.2:c.3593A>G	XP_011511222.1:p.His1198Arg
XM_011512922.2:c.2963A>G	XP_011511224.1:p.His988Arg
XM_017006640.1:c.3593A>G	XP_016862129.1:p.His1198Arg
XM_017006641.1:c.3593A>G	XP_016862130.1:p.His1198Arg
XM_017006642.1:c.3593A>G	XP_016862131.1:p.His1198Arg
XR_001740178.1:n.3711A>G
NM_001282857.2:c.3593A>G MANE Select	NP_001269786.1:p.His1198Arg
NM_019001.5:c.3593A>G	NP_061874.3:p.His1198Arg