Canonical Allele Identifier: CA406206202

Gene: SMG9

Linked Data

• dbSNP Id: rs1968546132
• gnomAD v3: 19-43733329-C-G
• gnomAD v4: 19-43733329-C-G
• MyVariant Identifiers: chr19:g.44237481C>G (hg19) ; chr19:g.43733329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733329C>G , CM000681.2:g.43733329C>G	GRCh38
NC_000019.9:g.44237481C>G , CM000681.1:g.44237481C>G	GRCh37
NC_000019.8:g.48929321C>G	NCBI36
NG_051200.1:g.26708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1334G>C MANE Select	ENSP00000270066.6:p.Arg445Thr
ENST00000270066.10:c.1334G>C	ENSP00000270066.6:p.Arg445Thr
ENST00000601170.5:c.1334G>C	ENSP00000471398.1:p.Arg445Thr
NM_019108.2:c.1334G>C	NP_061981.2:p.Arg445Thr
XM_005259057.2:c.1334G>C	XP_005259114.1:p.Arg445Thr
XM_011527113.1:c.1334G>C	XP_011525415.1:p.Arg445Thr
XM_011527114.1:c.1334G>C	XP_011525416.1:p.Arg445Thr
XM_011527115.1:c.1334G>C	XP_011525417.1:p.Arg445Thr
XM_011527116.1:c.1334G>C	XP_011525418.1:p.Arg445Thr
XM_011527117.1:c.602G>C	XP_011525419.1:p.Arg201Thr
NM_019108.3:c.1334G>C	NP_061981.2:p.Arg445Thr
XM_005259057.3:c.1334G>C	XP_005259114.1:p.Arg445Thr
XM_017026988.1:c.602G>C	XP_016882477.1:p.Arg201Thr
XM_024451608.1:c.602G>C	XP_024307376.1:p.Arg201Thr
NM_019108.4:c.1334G>C MANE Select	NP_061981.2:p.Arg445Thr