Canonical Allele Identifier: CA406206492

Gene: SMG9

Linked Data

• MyVariant Identifiers: chr19:g.44237559G>T (hg19) ; chr19:g.43733407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733407G>T , CM000681.2:g.43733407G>T	GRCh38
NC_000019.9:g.44237559G>T , CM000681.1:g.44237559G>T	GRCh37
NC_000019.8:g.48929399G>T	NCBI36
NG_051200.1:g.26630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1256C>A MANE Select	ENSP00000270066.6:p.Pro419His
ENST00000270066.10:c.1256C>A	ENSP00000270066.6:p.Pro419His
ENST00000594081.1:n.500C>A
ENST00000601170.5:c.1256C>A	ENSP00000471398.1:p.Pro419His
NM_019108.2:c.1256C>A	NP_061981.2:p.Pro419His
XM_005259057.2:c.1256C>A	XP_005259114.1:p.Pro419His
XM_011527113.1:c.1256C>A	XP_011525415.1:p.Pro419His
XM_011527114.1:c.1256C>A	XP_011525416.1:p.Pro419His
XM_011527115.1:c.1256C>A	XP_011525417.1:p.Pro419His
XM_011527116.1:c.1256C>A	XP_011525418.1:p.Pro419His
XM_011527117.1:c.524C>A	XP_011525419.1:p.Pro175His
NM_019108.3:c.1256C>A	NP_061981.2:p.Pro419His
XM_005259057.3:c.1256C>A	XP_005259114.1:p.Pro419His
XM_017026988.1:c.524C>A	XP_016882477.1:p.Pro175His
XM_024451608.1:c.524C>A	XP_024307376.1:p.Pro175His
NM_019108.4:c.1256C>A MANE Select	NP_061981.2:p.Pro419His