Canonical Allele Identifier: CA382591234
Gene: ALG9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111836178T>G , CM000673.2:g.111836178T>G GRCh38
NC_000011.9:g.111706901T>G , CM000673.1:g.111706901T>G GRCh37
NC_000011.8:g.111212111T>G NCBI36
NG_009210.1:g.40404A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000616540.5:c.1589A>C MANE Select ENSP00000482437.1:p.Glu530Ala
ENST00000398006.6:c.1055A>C ENSP00000381090.2:p.Glu352Ala
ENST00000526272.5:n.153A>C
ENST00000530851.6:n.537+17202A>C
ENST00000531154.5:c.1076A>C ENSP00000435517.1:p.Glu359Ala
ENST00000532425.6:c.322A>C
ENST00000614444.4:c.1568A>C ENSP00000484200.1:p.Glu523Ala
ENST00000616540.4:c.1589A>C ENSP00000482437.1:p.Glu530Ala
ENST00000619129.4:c.*1120A>C ENSP00000480661.1:n.*1120A>C
ENST00000622211.4:c.2267A>C ENSP00000482396.1:p.Glu756Ala
NM_001077690.1:c.1568A>C NP_001071158.1:p.Glu523Ala
NM_001077691.1:c.1076A>C NP_001071159.1:p.Glu359Ala
NM_001077692.1:c.1055A>C NP_001071160.1:p.Glu352Ala
NM_024740.2:c.1589A>C MANE Select NP_079016.2:p.Glu530Ala
XM_005277723.3:c.1589A>C XP_005277780.1:p.Glu530Ala
XM_005277724.3:c.1568A>C XP_005277781.1:p.Glu523Ala
XM_006718913.2:c.1589A>C XP_006718976.1:p.Glu530Ala
XM_011542990.1:c.1589A>C XP_011541292.1:p.Glu530Ala
XM_011542991.1:c.1568A>C XP_011541293.1:p.Glu523Ala
XM_011542992.1:c.1589A>C XP_011541294.1:p.Glu530Ala
XM_011542993.1:c.1076A>C XP_011541295.1:p.Glu359Ala
XM_011542994.1:c.1076A>C XP_011541296.1:p.Glu359Ala
XM_011542995.1:c.1076A>C XP_011541297.1:p.Glu359Ala
XM_011542996.1:c.1076A>C XP_011541298.1:p.Glu359Ala
XM_011542997.1:c.1001A>C XP_011541299.1:p.Glu334Ala
XR_947863.1:n.1688A>C
XR_947864.1:n.1512A>C
XR_947865.1:n.1512A>C
NM_001352409.1:c.1055A>C NP_001339338.1:p.Glu352Ala
NM_001352410.1:c.1055A>C NP_001339339.1:p.Glu352Ala
NM_001352411.1:c.1055A>C NP_001339340.1:p.Glu352Ala
NM_001352412.1:c.1055A>C NP_001339341.1:p.Glu352Ala
NM_001352413.1:c.1076A>C NP_001339342.1:p.Glu359Ala
NM_001352414.1:c.1076A>C NP_001339343.1:p.Glu359Ala
NM_001352415.1:c.1055A>C NP_001339344.1:p.Glu352Ala
NM_001352416.1:c.1055A>C NP_001339345.1:p.Glu352Ala
NM_001352417.1:c.1568A>C NP_001339346.1:p.Glu523Ala
NM_001352418.1:c.1445A>C NP_001339347.1:p.Glu482Ala
NM_001352419.1:c.1076A>C NP_001339348.1:p.Glu359Ala
NM_001352420.1:c.1055A>C NP_001339349.1:p.Glu352Ala
NM_001352421.1:c.1055A>C NP_001339350.1:p.Glu352Ala
NM_001352422.1:c.980A>C NP_001339351.1:p.Glu327Ala
NM_001352423.1:c.932A>C NP_001339352.1:p.Glu311Ala
NR_147984.1:n.1965A>C
XM_005277723.5:c.1589A>C XP_005277780.1:p.Glu530Ala
XM_006718913.3:c.1589A>C XP_006718976.1:p.Glu530Ala
XM_011542992.2:c.1589A>C XP_011541294.1:p.Glu530Ala
XM_017018313.2:c.1568A>C XP_016873802.1:p.Glu523Ala
XM_017018314.2:c.1466A>C XP_016873803.1:p.Glu489Ala
XM_024448695.1:c.1568A>C XP_024304463.1:p.Glu523Ala
XR_001747967.2:n.1677A>C
XR_001747968.2:n.1656A>C
XR_001747969.2:n.1554A>C
XR_001747970.2:n.1656A>C
XR_001747971.1:n.1985A>C
XR_001747972.1:n.1989A>C
XR_001747973.1:n.1692A>C
XR_001747974.1:n.1805A>C
XR_001747975.1:n.1964A>C
XR_001747976.1:n.1968A>C
XR_001747977.1:n.1141A>C
XR_001747979.1:n.1944A>C
XR_001747980.1:n.1640A>C
XR_947863.3:n.1677A>C
XR_947864.2:n.1501A>C
XR_947865.2:n.1501A>C
NM_001077691.2:c.1076A>C NP_001071159.1:p.Glu359Ala
NM_001077692.2:c.1055A>C NP_001071160.1:p.Glu352Ala
NM_001352411.2:c.1055A>C NP_001339340.1:p.Glu352Ala
NM_001352412.2:c.1055A>C NP_001339341.1:p.Glu352Ala
NM_001352414.2:c.1076A>C NP_001339343.1:p.Glu359Ala
NM_001352420.2:c.1055A>C NP_001339349.1:p.Glu352Ala
NM_001352421.2:c.1055A>C NP_001339350.1:p.Glu352Ala
NM_001352422.2:c.980A>C NP_001339351.1:p.Glu327Ala
NM_001352423.2:c.932A>C NP_001339352.1:p.Glu311Ala
NR_147984.2:n.1985A>C