Canonical Allele Identifier: CA382591246
Gene: ALG9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111836182C>G , CM000673.2:g.111836182C>G GRCh38
NC_000011.9:g.111706905C>G , CM000673.1:g.111706905C>G GRCh37
NC_000011.8:g.111212115C>G NCBI36
NG_009210.1:g.40400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000616540.5:c.1585G>C MANE Select ENSP00000482437.1:p.Glu529Gln
ENST00000398006.6:c.1051G>C ENSP00000381090.2:p.Glu351Gln
ENST00000526272.5:n.149G>C
ENST00000530851.6:n.537+17198G>C
ENST00000531154.5:c.1072G>C ENSP00000435517.1:p.Glu358Gln
ENST00000532425.6:c.318G>C
ENST00000614444.4:c.1564G>C ENSP00000484200.1:p.Glu522Gln
ENST00000616540.4:c.1585G>C ENSP00000482437.1:p.Glu529Gln
ENST00000619129.4:c.*1116G>C ENSP00000480661.1:n.*1116G>C
ENST00000622211.4:c.2263G>C ENSP00000482396.1:p.Glu755Gln
NM_001077690.1:c.1564G>C NP_001071158.1:p.Glu522Gln
NM_001077691.1:c.1072G>C NP_001071159.1:p.Glu358Gln
NM_001077692.1:c.1051G>C NP_001071160.1:p.Glu351Gln
NM_024740.2:c.1585G>C MANE Select NP_079016.2:p.Glu529Gln
XM_005277723.3:c.1585G>C XP_005277780.1:p.Glu529Gln
XM_005277724.3:c.1564G>C XP_005277781.1:p.Glu522Gln
XM_006718913.2:c.1585G>C XP_006718976.1:p.Glu529Gln
XM_011542990.1:c.1585G>C XP_011541292.1:p.Glu529Gln
XM_011542991.1:c.1564G>C XP_011541293.1:p.Glu522Gln
XM_011542992.1:c.1585G>C XP_011541294.1:p.Glu529Gln
XM_011542993.1:c.1072G>C XP_011541295.1:p.Glu358Gln
XM_011542994.1:c.1072G>C XP_011541296.1:p.Glu358Gln
XM_011542995.1:c.1072G>C XP_011541297.1:p.Glu358Gln
XM_011542996.1:c.1072G>C XP_011541298.1:p.Glu358Gln
XM_011542997.1:c.997G>C XP_011541299.1:p.Glu333Gln
XR_947863.1:n.1684G>C
XR_947864.1:n.1508G>C
XR_947865.1:n.1508G>C
NM_001352409.1:c.1051G>C NP_001339338.1:p.Glu351Gln
NM_001352410.1:c.1051G>C NP_001339339.1:p.Glu351Gln
NM_001352411.1:c.1051G>C NP_001339340.1:p.Glu351Gln
NM_001352412.1:c.1051G>C NP_001339341.1:p.Glu351Gln
NM_001352413.1:c.1072G>C NP_001339342.1:p.Glu358Gln
NM_001352414.1:c.1072G>C NP_001339343.1:p.Glu358Gln
NM_001352415.1:c.1051G>C NP_001339344.1:p.Glu351Gln
NM_001352416.1:c.1051G>C NP_001339345.1:p.Glu351Gln
NM_001352417.1:c.1564G>C NP_001339346.1:p.Glu522Gln
NM_001352418.1:c.1441G>C NP_001339347.1:p.Glu481Gln
NM_001352419.1:c.1072G>C NP_001339348.1:p.Glu358Gln
NM_001352420.1:c.1051G>C NP_001339349.1:p.Glu351Gln
NM_001352421.1:c.1051G>C NP_001339350.1:p.Glu351Gln
NM_001352422.1:c.976G>C NP_001339351.1:p.Glu326Gln
NM_001352423.1:c.928G>C NP_001339352.1:p.Glu310Gln
NR_147984.1:n.1961G>C
XM_005277723.5:c.1585G>C XP_005277780.1:p.Glu529Gln
XM_006718913.3:c.1585G>C XP_006718976.1:p.Glu529Gln
XM_011542992.2:c.1585G>C XP_011541294.1:p.Glu529Gln
XM_017018313.2:c.1564G>C XP_016873802.1:p.Glu522Gln
XM_017018314.2:c.1462G>C XP_016873803.1:p.Glu488Gln
XM_024448695.1:c.1564G>C XP_024304463.1:p.Glu522Gln
XR_001747967.2:n.1673G>C
XR_001747968.2:n.1652G>C
XR_001747969.2:n.1550G>C
XR_001747970.2:n.1652G>C
XR_001747971.1:n.1981G>C
XR_001747972.1:n.1985G>C
XR_001747973.1:n.1688G>C
XR_001747974.1:n.1801G>C
XR_001747975.1:n.1960G>C
XR_001747976.1:n.1964G>C
XR_001747977.1:n.1137G>C
XR_001747979.1:n.1940G>C
XR_001747980.1:n.1636G>C
XR_947863.3:n.1673G>C
XR_947864.2:n.1497G>C
XR_947865.2:n.1497G>C
NM_001077691.2:c.1072G>C NP_001071159.1:p.Glu358Gln
NM_001077692.2:c.1051G>C NP_001071160.1:p.Glu351Gln
NM_001352411.2:c.1051G>C NP_001339340.1:p.Glu351Gln
NM_001352412.2:c.1051G>C NP_001339341.1:p.Glu351Gln
NM_001352414.2:c.1072G>C NP_001339343.1:p.Glu358Gln
NM_001352420.2:c.1051G>C NP_001339349.1:p.Glu351Gln
NM_001352421.2:c.1051G>C NP_001339350.1:p.Glu351Gln
NM_001352422.2:c.976G>C NP_001339351.1:p.Glu326Gln
NM_001352423.2:c.928G>C NP_001339352.1:p.Glu310Gln
NR_147984.2:n.1981G>C