Canonical Allele Identifier: CA406206571

Gene: SMG9

Linked Data

• dbSNP Id: rs1200868122
• gnomAD v2: 19-44237583-C-T
• gnomAD v3: 19-43733431-C-T
• gnomAD v4: 19-43733431-C-T
• MyVariant Identifiers: chr19:g.44237583C>T (hg19) ; chr19:g.43733431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733431C>T , CM000681.2:g.43733431C>T	GRCh38
NC_000019.9:g.44237583C>T , CM000681.1:g.44237583C>T	GRCh37
NC_000019.8:g.48929423C>T	NCBI36
NG_051200.1:g.26606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1232G>A MANE Select	ENSP00000270066.6:p.Cys411Tyr
ENST00000270066.10:c.1232G>A	ENSP00000270066.6:p.Cys411Tyr
ENST00000594081.1:n.476G>A
ENST00000598860.1:n.567G>A
ENST00000601170.5:c.1232G>A	ENSP00000471398.1:p.Cys411Tyr
NM_019108.2:c.1232G>A	NP_061981.2:p.Cys411Tyr
XM_005259057.2:c.1232G>A	XP_005259114.1:p.Cys411Tyr
XM_011527113.1:c.1232G>A	XP_011525415.1:p.Cys411Tyr
XM_011527114.1:c.1232G>A	XP_011525416.1:p.Cys411Tyr
XM_011527115.1:c.1232G>A	XP_011525417.1:p.Cys411Tyr
XM_011527116.1:c.1232G>A	XP_011525418.1:p.Cys411Tyr
XM_011527117.1:c.500G>A	XP_011525419.1:p.Cys167Tyr
NM_019108.3:c.1232G>A	NP_061981.2:p.Cys411Tyr
XM_005259057.3:c.1232G>A	XP_005259114.1:p.Cys411Tyr
XM_017026988.1:c.500G>A	XP_016882477.1:p.Cys167Tyr
XM_024451608.1:c.500G>A	XP_024307376.1:p.Cys167Tyr
NM_019108.4:c.1232G>A MANE Select	NP_061981.2:p.Cys411Tyr