Canonical Allele Identifier: CA382593168
Community Standard Title: NM_024740.2(ALG9):c.1312G>A (p.Ala438Thr)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111838261C>T , CM000673.2:g.111838261C>T GRCh38
NC_000011.9:g.111708984C>T , CM000673.1:g.111708984C>T GRCh37
NC_000011.8:g.111214194C>T NCBI36
NG_009210.1:g.38321G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.1312G>A MANE Select NP_079016.2:p.Ala438Thr
ENST00000616540.5:c.1312G>A MANE Select ENSP00000482437.1:p.Ala438Thr
NM_001077690.1:c.1291G>A NP_001071158.1:p.Ala431Thr
NM_001077691.1:c.799G>A NP_001071159.1:p.Ala267Thr
NM_001077691.2:c.799G>A NP_001071159.1:p.Ala267Thr
NM_001077692.1:c.778G>A NP_001071160.1:p.Ala260Thr
NM_001077692.2:c.778G>A NP_001071160.1:p.Ala260Thr
NM_001352409.1:c.778G>A NP_001339338.1:p.Ala260Thr
NM_001352410.1:c.778G>A NP_001339339.1:p.Ala260Thr
NM_001352411.1:c.778G>A NP_001339340.1:p.Ala260Thr
NM_001352411.2:c.778G>A NP_001339340.1:p.Ala260Thr
NM_001352412.1:c.778G>A NP_001339341.1:p.Ala260Thr
NM_001352412.2:c.778G>A NP_001339341.1:p.Ala260Thr
NM_001352413.1:c.799G>A NP_001339342.1:p.Ala267Thr
NM_001352414.1:c.799G>A NP_001339343.1:p.Ala267Thr
NM_001352414.2:c.799G>A NP_001339343.1:p.Ala267Thr
NM_001352415.1:c.778G>A NP_001339344.1:p.Ala260Thr
NM_001352416.1:c.778G>A NP_001339345.1:p.Ala260Thr
NM_001352417.1:c.1291G>A NP_001339346.1:p.Ala431Thr
NM_001352418.1:c.1168G>A NP_001339347.1:p.Ala390Thr
NM_001352419.1:c.799G>A NP_001339348.1:p.Ala267Thr
NM_001352420.1:c.778G>A NP_001339349.1:p.Ala260Thr
NM_001352420.2:c.778G>A NP_001339349.1:p.Ala260Thr
NM_001352421.1:c.778G>A NP_001339350.1:p.Ala260Thr
NM_001352421.2:c.778G>A NP_001339350.1:p.Ala260Thr
NM_001352422.1:c.703G>A NP_001339351.1:p.Ala235Thr
NM_001352422.2:c.703G>A NP_001339351.1:p.Ala235Thr
NM_001352423.1:c.655G>A NP_001339352.1:p.Ala219Thr
NM_001352423.2:c.655G>A NP_001339352.1:p.Ala219Thr
NR_147984.1:n.1688G>A
NR_147984.2:n.1708G>A
ENST00000398006.6:c.778G>A ENSP00000381090.2:p.Ala260Thr
ENST00000527294.5:n.609G>A
ENST00000530851.6:n.537+15119G>A
ENST00000531154.5:c.799G>A ENSP00000435517.1:p.Ala267Thr
ENST00000532425.6:c.45G>A
ENST00000613181.4:c.*713G>A ENSP00000479335.1:n.*713G>A
ENST00000614444.4:c.1291G>A ENSP00000484200.1:p.Ala431Thr
ENST00000616540.4:c.1312G>A ENSP00000482437.1:p.Ala438Thr
ENST00000619129.4:c.*843G>A ENSP00000480661.1:n.*843G>A
ENST00000622211.4:c.1990G>A ENSP00000482396.1:p.Ala664Thr
XM_005277723.3:c.1312G>A XP_005277780.1:p.Ala438Thr
XM_005277723.5:c.1312G>A XP_005277780.1:p.Ala438Thr
XM_005277724.3:c.1291G>A XP_005277781.1:p.Ala431Thr
XM_006718913.2:c.1312G>A XP_006718976.1:p.Ala438Thr
XM_006718913.3:c.1312G>A XP_006718976.1:p.Ala438Thr
XM_011542990.1:c.1312G>A XP_011541292.1:p.Ala438Thr
XM_011542991.1:c.1291G>A XP_011541293.1:p.Ala431Thr
XM_011542992.1:c.1312G>A XP_011541294.1:p.Ala438Thr
XM_011542992.2:c.1312G>A XP_011541294.1:p.Ala438Thr
XM_011542993.1:c.799G>A XP_011541295.1:p.Ala267Thr
XM_011542994.1:c.799G>A XP_011541296.1:p.Ala267Thr
XM_011542995.1:c.799G>A XP_011541297.1:p.Ala267Thr
XM_011542996.1:c.799G>A XP_011541298.1:p.Ala267Thr
XM_011542997.1:c.724G>A XP_011541299.1:p.Ala242Thr
XM_017018313.2:c.1291G>A XP_016873802.1:p.Ala431Thr
XM_017018314.2:c.1189G>A XP_016873803.1:p.Ala397Thr
XM_024448695.1:c.1291G>A XP_024304463.1:p.Ala431Thr
XR_001747967.2:n.1400G>A
XR_001747968.2:n.1379G>A
XR_001747969.2:n.1277G>A
XR_001747970.2:n.1379G>A
XR_001747971.1:n.1708G>A
XR_001747972.1:n.1712G>A
XR_001747973.1:n.1415G>A
XR_001747974.1:n.1528G>A
XR_001747975.1:n.1687G>A
XR_001747976.1:n.1691G>A
XR_001747977.1:n.864G>A
XR_001747979.1:n.1667G>A
XR_001747980.1:n.1363G>A
XR_947863.1:n.1411G>A
XR_947863.3:n.1400G>A
XR_947864.1:n.1235G>A
XR_947864.2:n.1224G>A
XR_947865.1:n.1235G>A
XR_947865.2:n.1224G>A