Canonical Allele Identifier: CA6274307
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111786504G>A , CM000673.2:g.111786504G>A GRCh38
NC_000011.9:g.111657228G>A , CM000673.1:g.111657228G>A GRCh37
NC_000011.8:g.111162438G>A NCBI36
NG_009210.1:g.90077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616540.5:c.1750C>T MANE Select ENSP00000482437.1:p.Arg584Trp
ENST00000398006.6:c.1216C>T ENSP00000381090.2:p.Arg406Trp
ENST00000524671.1:c.306C>T
ENST00000525910.1:c.167C>T
ENST00000526272.5:n.314C>T
ENST00000527212.5:n.269C>T
ENST00000531154.5:c.1237C>T ENSP00000435517.1:p.Arg413Trp
ENST00000532425.6:c.483C>T
ENST00000614444.4:c.1729C>T ENSP00000484200.1:p.Arg577Trp
ENST00000616540.4:c.1750C>T ENSP00000482437.1:p.Arg584Trp
ENST00000619129.4:c.*1410C>T ENSP00000480661.1:n.*1410C>T
ENST00000622211.4:c.2428C>T ENSP00000482396.1:p.Arg810Trp
NM_001077690.1:c.1729C>T NP_001071158.1:p.Arg577Trp
NM_001077691.1:c.1237C>T NP_001071159.1:p.Arg413Trp
NM_001077692.1:c.1216C>T NP_001071160.1:p.Arg406Trp
NM_024740.2:c.1750C>T MANE Select NP_079016.2:p.Arg584Trp
XM_005277723.3:c.1750C>T XP_005277780.1:p.Arg584Trp
XM_005277724.3:c.1729C>T XP_005277781.1:p.Arg577Trp
XM_006718913.2:c.*16C>T XP_006718976.1:n.*16C>T
XM_011542992.1:c.*22C>T XP_011541294.1:n.*22C>T
XR_947863.1:n.2071C>T
XR_947864.1:n.1673C>T
XR_947865.1:n.1802C>T
NM_001352409.1:c.1216C>T NP_001339338.1:p.Arg406Trp
NM_001352410.1:c.1216C>T NP_001339339.1:p.Arg406Trp
NM_001352411.1:c.1216C>T NP_001339340.1:p.Arg406Trp
NM_001352412.1:c.1216C>T NP_001339341.1:p.Arg406Trp
NM_001352413.1:c.1237C>T NP_001339342.1:p.Arg413Trp
NM_001352414.1:c.1237C>T NP_001339343.1:p.Arg413Trp
NM_001352415.1:c.1216C>T NP_001339344.1:p.Arg406Trp
NM_001352416.1:c.1216C>T NP_001339345.1:p.Arg406Trp
NM_001352417.1:c.1729C>T NP_001339346.1:p.Arg577Trp
NM_001352418.1:c.1606C>T NP_001339347.1:p.Arg536Trp
NM_001352419.1:c.1237C>T NP_001339348.1:p.Arg413Trp
NM_001352420.1:c.*22C>T NP_001339349.1:n.*22C>T
NM_001352421.1:c.*16C>T NP_001339350.1:n.*16C>T
NM_001352422.1:c.1141C>T NP_001339351.1:p.Arg381Trp
NM_001352423.1:c.1093C>T NP_001339352.1:p.Arg365Trp
NR_147984.1:n.2348C>T
XM_005277723.5:c.1750C>T XP_005277780.1:p.Arg584Trp
XM_006718913.3:c.*16C>T XP_006718976.1:n.*16C>T
XM_011542992.2:c.*22C>T XP_011541294.1:n.*22C>T
XM_017018313.2:c.*22C>T XP_016873802.1:n.*22C>T
XM_017018314.2:c.1627C>T XP_016873803.1:p.Arg543Trp
XM_024448695.1:c.*16C>T XP_024304463.1:n.*16C>T
XR_001747967.2:n.1838C>T
XR_001747968.2:n.1817C>T
XR_001747969.2:n.1715C>T
XR_001747970.2:n.2039C>T
XR_001747971.1:n.2146C>T
XR_001747972.1:n.2150C>T
XR_001747973.1:n.1853C>T
XR_001747974.1:n.1966C>T
XR_001747975.1:n.2125C>T
XR_001747976.1:n.2129C>T
XR_001747977.1:n.1302C>T
XR_001747979.1:n.2327C>T
XR_001747980.1:n.2023C>T
XR_947863.3:n.2060C>T
XR_947864.2:n.1662C>T
XR_947865.2:n.1791C>T
NM_001077691.2:c.1237C>T NP_001071159.1:p.Arg413Trp
NM_001077692.2:c.1216C>T NP_001071160.1:p.Arg406Trp
NM_001352411.2:c.1216C>T NP_001339340.1:p.Arg406Trp
NM_001352412.2:c.1216C>T NP_001339341.1:p.Arg406Trp
NM_001352414.2:c.1237C>T NP_001339343.1:p.Arg413Trp
NM_001352420.2:c.*22C>T NP_001339349.1:n.*22C>T
NM_001352421.2:c.*16C>T NP_001339350.1:n.*16C>T
NM_001352422.2:c.1141C>T NP_001339351.1:p.Arg381Trp
NM_001352423.2:c.1093C>T NP_001339352.1:p.Arg365Trp
NR_147984.2:n.2368C>T