Canonical Allele Identifier: CA6274304
Community Standard Title: NM_024740.2(ALG9):c.1762G>T (p.Val588Phe)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111786492C>A , CM000673.2:g.111786492C>A GRCh38
NC_000011.9:g.111657216C>A , CM000673.1:g.111657216C>A GRCh37
NC_000011.8:g.111162426C>A NCBI36
NG_009210.1:g.90089G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.1762G>T MANE Select NP_079016.2:p.Val588Phe
ENST00000616540.5:c.1762G>T MANE Select ENSP00000482437.1:p.Val588Phe
NM_001077690.1:c.1741G>T NP_001071158.1:p.Val581Phe
NM_001077691.1:c.1249G>T NP_001071159.1:p.Val417Phe
NM_001077691.2:c.1249G>T NP_001071159.1:p.Val417Phe
NM_001077692.1:c.1228G>T NP_001071160.1:p.Val410Phe
NM_001077692.2:c.1228G>T NP_001071160.1:p.Val410Phe
NM_001352409.1:c.1228G>T NP_001339338.1:p.Val410Phe
NM_001352410.1:c.1228G>T NP_001339339.1:p.Val410Phe
NM_001352411.1:c.1228G>T NP_001339340.1:p.Val410Phe
NM_001352411.2:c.1228G>T NP_001339340.1:p.Val410Phe
NM_001352412.1:c.1228G>T NP_001339341.1:p.Val410Phe
NM_001352412.2:c.1228G>T NP_001339341.1:p.Val410Phe
NM_001352413.1:c.1249G>T NP_001339342.1:p.Val417Phe
NM_001352414.1:c.1249G>T NP_001339343.1:p.Val417Phe
NM_001352414.2:c.1249G>T NP_001339343.1:p.Val417Phe
NM_001352415.1:c.1228G>T NP_001339344.1:p.Val410Phe
NM_001352416.1:c.1228G>T NP_001339345.1:p.Val410Phe
NM_001352417.1:c.1741G>T NP_001339346.1:p.Val581Phe
NM_001352418.1:c.1618G>T NP_001339347.1:p.Val540Phe
NM_001352419.1:c.1249G>T NP_001339348.1:p.Val417Phe
NM_001352420.1:c.*34G>T NP_001339349.1:n.*34G>T
NM_001352420.2:c.*34G>T NP_001339349.1:n.*34G>T
NM_001352421.1:c.*28G>T NP_001339350.1:n.*28G>T
NM_001352421.2:c.*28G>T NP_001339350.1:n.*28G>T
NM_001352422.1:c.1153G>T NP_001339351.1:p.Val385Phe
NM_001352422.2:c.1153G>T NP_001339351.1:p.Val385Phe
NM_001352423.1:c.1105G>T NP_001339352.1:p.Val369Phe
NM_001352423.2:c.1105G>T NP_001339352.1:p.Val369Phe
NR_147984.1:n.2360G>T
NR_147984.2:n.2380G>T
ENST00000398006.6:c.1228G>T ENSP00000381090.2:p.Val410Phe
ENST00000524671.1:c.318G>T
ENST00000525910.1:c.179G>T
ENST00000526272.5:n.326G>T
ENST00000527212.5:n.281G>T
ENST00000531154.5:c.1249G>T ENSP00000435517.1:p.Val417Phe
ENST00000532425.6:c.495G>T
ENST00000614444.4:c.1741G>T ENSP00000484200.1:p.Val581Phe
ENST00000616540.4:c.1762G>T ENSP00000482437.1:p.Val588Phe
ENST00000619129.4:c.*1422G>T ENSP00000480661.1:n.*1422G>T
ENST00000622211.4:c.2440G>T ENSP00000482396.1:p.Val814Phe
XM_005277723.3:c.1762G>T XP_005277780.1:p.Val588Phe
XM_005277723.5:c.1762G>T XP_005277780.1:p.Val588Phe
XM_005277724.3:c.1741G>T XP_005277781.1:p.Val581Phe
XM_006718913.2:c.*28G>T XP_006718976.1:n.*28G>T
XM_006718913.3:c.*28G>T XP_006718976.1:n.*28G>T
XM_011542992.1:c.*34G>T XP_011541294.1:n.*34G>T
XM_011542992.2:c.*34G>T XP_011541294.1:n.*34G>T
XM_017018313.2:c.*34G>T XP_016873802.1:n.*34G>T
XM_017018314.2:c.1639G>T XP_016873803.1:p.Val547Phe
XM_024448695.1:c.*28G>T XP_024304463.1:n.*28G>T
XR_001747967.2:n.1850G>T
XR_001747968.2:n.1829G>T
XR_001747969.2:n.1727G>T
XR_001747970.2:n.2051G>T
XR_001747971.1:n.2158G>T
XR_001747972.1:n.2162G>T
XR_001747973.1:n.1865G>T
XR_001747974.1:n.1978G>T
XR_001747975.1:n.2137G>T
XR_001747976.1:n.2141G>T
XR_001747977.1:n.1314G>T
XR_001747979.1:n.2339G>T
XR_001747980.1:n.2035G>T
XR_947863.1:n.2083G>T
XR_947863.3:n.2072G>T
XR_947864.1:n.1685G>T
XR_947864.2:n.1674G>T
XR_947865.1:n.1814G>T
XR_947865.2:n.1803G>T