Canonical Allele Identifier: CA406206184
Gene: SMG9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43733326G>A , CM000681.2:g.43733326G>A GRCh38
NC_000019.9:g.44237478G>A , CM000681.1:g.44237478G>A GRCh37
NC_000019.8:g.48929318G>A NCBI36
NG_051200.1:g.26711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270066.11:c.1337C>T MANE Select ENSP00000270066.6:p.Ala446Val
ENST00000270066.10:c.1337C>T ENSP00000270066.6:p.Ala446Val
ENST00000601170.5:c.1337C>T ENSP00000471398.1:p.Ala446Val
NM_019108.2:c.1337C>T NP_061981.2:p.Ala446Val
XM_005259057.2:c.1337C>T XP_005259114.1:p.Ala446Val
XM_011527113.1:c.1337C>T XP_011525415.1:p.Ala446Val
XM_011527114.1:c.1337C>T XP_011525416.1:p.Ala446Val
XM_011527115.1:c.1337C>T XP_011525417.1:p.Ala446Val
XM_011527116.1:c.1337C>T XP_011525418.1:p.Ala446Val
XM_011527117.1:c.605C>T XP_011525419.1:p.Ala202Val
NM_019108.3:c.1337C>T NP_061981.2:p.Ala446Val
XM_005259057.3:c.1337C>T XP_005259114.1:p.Ala446Val
XM_017026988.1:c.605C>T XP_016882477.1:p.Ala202Val
XM_024451608.1:c.605C>T XP_024307376.1:p.Ala202Val
NM_019108.4:c.1337C>T MANE Select NP_061981.2:p.Ala446Val