Canonical Allele Identifier: CA353477

Gene: SMG9

Linked Data

• ClinVar Variation Id: 224498
• ClinVar RCV Id: RCV000210951 ; RCV000210060 ; RCV003137803
• dbSNP Id: rs869312742
• gnomAD v4: 19-43744768-T-C
• MyVariant Identifiers: chr19:g.44248920T>C (hg19) ; chr19:g.43744768T>C (hg38)
• PubMed: PMID:27018474

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43744768T>C , CM000681.2:g.43744768T>C	GRCh38
NC_000019.9:g.44248920T>C , CM000681.1:g.44248920T>C	GRCh37
NC_000019.8:g.48940760T>C	NCBI36
NG_051200.1:g.15269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270066.11:c.701+4A>G MANE Select	ENSP00000270066.6:n.701+4A>G
ENST00000270066.10:c.701+4A>G	ENSP00000270066.6:n.701+4A>G
ENST00000595700.5:n.921+4A>G
ENST00000597598.1:c.313+4A>G
ENST00000601170.5:c.701+4A>G	ENSP00000471398.1:n.701+4A>G
NM_019108.2:c.701+4A>G	NP_061981.2:n.701+4A>G
XM_005259057.2:c.701+4A>G	XP_005259114.1:n.701+4A>G
XM_011527113.1:c.701+4A>G	XP_011525415.1:n.701+4A>G
XM_011527114.1:c.701+4A>G	XP_011525416.1:n.701+4A>G
XM_011527115.1:c.701+4A>G	XP_011525417.1:n.701+4A>G
XM_011527116.1:c.701+4A>G	XP_011525418.1:n.701+4A>G
XM_011527117.1:c.-32+2674A>G	XP_011525419.1:n.-32+2674A>G
NM_019108.3:c.701+4A>G	NP_061981.2:n.701+4A>G
XM_005259057.3:c.701+4A>G	XP_005259114.1:n.701+4A>G
XM_017026988.1:c.-32+2674A>G	XP_016882477.1:n.-32+2674A>G
XM_024451608.1:c.-32+2674A>G	XP_024307376.1:n.-32+2674A>G
NM_019108.4:c.701+4A>G MANE Select	NP_061981.2:n.701+4A>G