Canonical Allele Identifier: CA9491204

Gene: SMG9

Linked Data

• ClinVar Variation Id: 520551
• ClinVar RCV Id: RCV000624645
• dbSNP Id: rs777838022
• ExAC: 19:44237566 G / A
• gnomAD v2: 19-44237566-G-A
• gnomAD v3: 19-43733414-G-A
• gnomAD v4: 19-43733414-G-A
• MyVariant Identifiers: chr19:g.44237566G>A (hg19) ; chr19:g.43733414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733414G>A , CM000681.2:g.43733414G>A	GRCh38
NC_000019.9:g.44237566G>A , CM000681.1:g.44237566G>A	GRCh37
NC_000019.8:g.48929406G>A	NCBI36
NG_051200.1:g.26623C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270066.11:c.1249C>T MANE Select	ENSP00000270066.6:p.Leu417Phe
ENST00000270066.10:c.1249C>T	ENSP00000270066.6:p.Leu417Phe
ENST00000594081.1:n.493C>T
ENST00000601170.5:c.1249C>T	ENSP00000471398.1:p.Leu417Phe
NM_019108.2:c.1249C>T	NP_061981.2:p.Leu417Phe
XM_005259057.2:c.1249C>T	XP_005259114.1:p.Leu417Phe
XM_011527113.1:c.1249C>T	XP_011525415.1:p.Leu417Phe
XM_011527114.1:c.1249C>T	XP_011525416.1:p.Leu417Phe
XM_011527115.1:c.1249C>T	XP_011525417.1:p.Leu417Phe
XM_011527116.1:c.1249C>T	XP_011525418.1:p.Leu417Phe
XM_011527117.1:c.517C>T	XP_011525419.1:p.Leu173Phe
NM_019108.3:c.1249C>T	NP_061981.2:p.Leu417Phe
XM_005259057.3:c.1249C>T	XP_005259114.1:p.Leu417Phe
XM_017026988.1:c.517C>T	XP_016882477.1:p.Leu173Phe
XM_024451608.1:c.517C>T	XP_024307376.1:p.Leu173Phe
NM_019108.4:c.1249C>T MANE Select	NP_061981.2:p.Leu417Phe