Canonical Allele Identifier: CA507932824

Gene: SMG9

Linked Data

• MyVariant Identifiers: chr19:g.44237522T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733370T>C , CM000681.2:g.43733370T>C	GRCh38
NC_000019.9:g.44237522T>C , CM000681.1:g.44237522T>C	GRCh37
NC_000019.8:g.48929362T>C	NCBI36
NG_051200.1:g.26667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1293A>G MANE Select	ENSP00000270066.6:p.Val431=
ENST00000270066.10:c.1293A>G	ENSP00000270066.6:p.Val431=
ENST00000594081.1:n.537A>G
ENST00000601170.5:c.1293A>G	ENSP00000471398.1:p.Val431=
NM_019108.2:c.1293A>G	NP_061981.2:p.Val431=
XM_005259057.2:c.1293A>G	XP_005259114.1:p.Val431=
XM_011527113.1:c.1293A>G	XP_011525415.1:p.Val431=
XM_011527114.1:c.1293A>G	XP_011525416.1:p.Val431=
XM_011527115.1:c.1293A>G	XP_011525417.1:p.Val431=
XM_011527116.1:c.1293A>G	XP_011525418.1:p.Val431=
XM_011527117.1:c.561A>G	XP_011525419.1:p.Val187=
NM_019108.3:c.1293A>G	NP_061981.2:p.Val431=
XM_005259057.3:c.1293A>G	XP_005259114.1:p.Val431=
XM_017026988.1:c.561A>G	XP_016882477.1:p.Val187=
XM_024451608.1:c.561A>G	XP_024307376.1:p.Val187=
NM_019108.4:c.1293A>G MANE Select	NP_061981.2:p.Val431=