Canonical Allele Identifier: CA2585556800

Gene: SMG9

Linked Data

• gnomAD v4: 19-43733319-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43733319T>C , CM000681.2:g.43733319T>C	GRCh38
NC_000019.9:g.44237471T>C , CM000681.1:g.44237471T>C	GRCh37
NC_000019.8:g.48929311T>C	NCBI36
NG_051200.1:g.26718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.1339+5A>G MANE Select	ENSP00000270066.6:n.1339+5A>G
ENST00000270066.10:c.1339+5A>G	ENSP00000270066.6:n.1339+5A>G
ENST00000601170.5:c.1339+5A>G	ENSP00000471398.1:n.1339+5A>G
NM_019108.2:c.1339+5A>G	NP_061981.2:n.1339+5A>G
XM_005259057.2:c.1339+5A>G	XP_005259114.1:n.1339+5A>G
XM_011527113.1:c.1339+5A>G	XP_011525415.1:n.1339+5A>G
XM_011527114.1:c.1339+5A>G	XP_011525416.1:n.1339+5A>G
XM_011527115.1:c.1339+5A>G	XP_011525417.1:n.1339+5A>G
XM_011527116.1:c.1339+5A>G	XP_011525418.1:n.1339+5A>G
XM_011527117.1:c.607+5A>G	XP_011525419.1:n.607+5A>G
NM_019108.3:c.1339+5A>G	NP_061981.2:n.1339+5A>G
XM_005259057.3:c.1339+5A>G	XP_005259114.1:n.1339+5A>G
XM_017026988.1:c.607+5A>G	XP_016882477.1:n.607+5A>G
XM_024451608.1:c.607+5A>G	XP_024307376.1:n.607+5A>G
NM_019108.4:c.1339+5A>G MANE Select	NP_061981.2:n.1339+5A>G