Canonical Allele Identifier: CA507932868

Gene: SMG9

Linked Data

• gnomAD v4: 19-43733400-G-A
• MyVariant Identifiers: chr19:g.44237552G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733400G>A , CM000681.2:g.43733400G>A	GRCh38
NC_000019.9:g.44237552G>A , CM000681.1:g.44237552G>A	GRCh37
NC_000019.8:g.48929392G>A	NCBI36
NG_051200.1:g.26637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1263C>T MANE Select	ENSP00000270066.6:p.Phe421=
ENST00000270066.10:c.1263C>T	ENSP00000270066.6:p.Phe421=
ENST00000594081.1:n.507C>T
ENST00000601170.5:c.1263C>T	ENSP00000471398.1:p.Phe421=
NM_019108.2:c.1263C>T	NP_061981.2:p.Phe421=
XM_005259057.2:c.1263C>T	XP_005259114.1:p.Phe421=
XM_011527113.1:c.1263C>T	XP_011525415.1:p.Phe421=
XM_011527114.1:c.1263C>T	XP_011525416.1:p.Phe421=
XM_011527115.1:c.1263C>T	XP_011525417.1:p.Phe421=
XM_011527116.1:c.1263C>T	XP_011525418.1:p.Phe421=
XM_011527117.1:c.531C>T	XP_011525419.1:p.Phe177=
NM_019108.3:c.1263C>T	NP_061981.2:p.Phe421=
XM_005259057.3:c.1263C>T	XP_005259114.1:p.Phe421=
XM_017026988.1:c.531C>T	XP_016882477.1:p.Phe177=
XM_024451608.1:c.531C>T	XP_024307376.1:p.Phe177=
NM_019108.4:c.1263C>T MANE Select	NP_061981.2:p.Phe421=