Canonical Allele Identifier: CA308815953

Gene: SMG9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43744811A>G , CM000681.2:g.43744811A>G	GRCh38
NC_000019.9:g.44248963A>G , CM000681.1:g.44248963A>G	GRCh37
NC_000019.8:g.48940803A>G	NCBI36
NG_051200.1:g.15226T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019108.4:c.662T>C MANE Select	NP_061981.2:p.Met221Thr
ENST00000270066.11:c.662T>C MANE Select	ENSP00000270066.6:p.Met221Thr
NM_019108.2:c.662T>C	NP_061981.2:p.Met221Thr
NM_019108.3:c.662T>C	NP_061981.2:p.Met221Thr
ENST00000270066.10:c.662T>C	ENSP00000270066.6:p.Met221Thr
ENST00000595700.5:n.882T>C
ENST00000597598.1:c.274T>C
ENST00000601170.5:c.662T>C	ENSP00000471398.1:p.Met221Thr
XM_005259057.2:c.662T>C	XP_005259114.1:p.Met221Thr
XM_005259057.3:c.662T>C	XP_005259114.1:p.Met221Thr
XM_011527113.1:c.662T>C	XP_011525415.1:p.Met221Thr
XM_011527114.1:c.662T>C	XP_011525416.1:p.Met221Thr
XM_011527115.1:c.662T>C	XP_011525417.1:p.Met221Thr
XM_011527116.1:c.662T>C	XP_011525418.1:p.Met221Thr
XM_011527117.1:c.-32+2631T>C	XP_011525419.1:n.-32+2631T>C
XM_017026988.1:c.-32+2631T>C	XP_016882477.1:n.-32+2631T>C
XM_024451608.1:c.-32+2631T>C	XP_024307376.1:n.-32+2631T>C