Canonical Allele Identifier: CA996178565

Gene: SMG9

Linked Data

• dbSNP Id: rs1968546764
• gnomAD v3: 19-43733337-GT-G
• gnomAD v4: 19-43733337-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733341del , CM000681.2:g.43733341del	GRCh38
NC_000019.9:g.44237493del , CM000681.1:g.44237493del	GRCh37
NC_000019.8:g.48929333del	NCBI36
NG_051200.1:g.26699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1325del MANE Select	ENSP00000270066.6:p.Asn442ThrfsTer29
ENST00000270066.10:c.1325del	ENSP00000270066.6:p.Asn442ThrfsTer29
ENST00000601170.5:c.1325del	ENSP00000471398.1:p.Asn442ThrfsTer29
NM_019108.2:c.1325del	NP_061981.2:p.Asn442ThrfsTer29
XM_005259057.2:c.1325del	XP_005259114.1:p.Asn442ThrfsTer29
XM_011527113.1:c.1325del	XP_011525415.1:p.Asn442ThrfsTer29
XM_011527114.1:c.1325del	XP_011525416.1:p.Asn442ThrfsTer29
XM_011527115.1:c.1325del	XP_011525417.1:p.Asn442ThrfsTer29
XM_011527116.1:c.1325del	XP_011525418.1:p.Asn442ThrfsTer29
XM_011527117.1:c.593del	XP_011525419.1:p.Asn198ThrfsTer29
NM_019108.3:c.1325del	NP_061981.2:p.Asn442ThrfsTer29
XM_005259057.3:c.1325del	XP_005259114.1:p.Asn442ThrfsTer29
XM_017026988.1:c.593del	XP_016882477.1:p.Asn198ThrfsTer29
XM_024451608.1:c.593del	XP_024307376.1:p.Asn198ThrfsTer29
NM_019108.4:c.1325del MANE Select	NP_061981.2:p.Asn442ThrfsTer29