Canonical Allele Identifier: CA6274369
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111809772A>C , CM000673.2:g.111809772A>C GRCh38
NC_000011.9:g.111680496A>C , CM000673.1:g.111680496A>C GRCh37
NC_000011.8:g.111185706A>C NCBI36
NG_009210.1:g.66809T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000616540.5:c.1604T>G MANE Select ENSP00000482437.1:p.Ile535Ser
ENST00000398006.6:c.1070T>G ENSP00000381090.2:p.Ile357Ser
ENST00000526272.5:n.168T>G
ENST00000527212.5:n.123T>G
ENST00000530851.6:n.539T>G
ENST00000531154.5:c.1091T>G ENSP00000435517.1:p.Ile364Ser
ENST00000532425.6:c.337T>G
ENST00000614444.4:c.1583T>G ENSP00000484200.1:p.Ile528Ser
ENST00000616540.4:c.1604T>G ENSP00000482437.1:p.Ile535Ser
ENST00000619129.4:c.*1135T>G ENSP00000480661.1:n.*1135T>G
ENST00000622211.4:c.2282T>G ENSP00000482396.1:p.Ile761Ser
NM_001077690.1:c.1583T>G NP_001071158.1:p.Ile528Ser
NM_001077691.1:c.1091T>G NP_001071159.1:p.Ile364Ser
NM_001077692.1:c.1070T>G NP_001071160.1:p.Ile357Ser
NM_024740.2:c.1604T>G MANE Select NP_079016.2:p.Ile535Ser
XM_005277723.3:c.1604T>G XP_005277780.1:p.Ile535Ser
XM_005277724.3:c.1583T>G XP_005277781.1:p.Ile528Ser
XM_006718913.2:c.1604T>G XP_006718976.1:p.Ile535Ser
XM_011542990.1:c.1604T>G XP_011541292.1:p.Ile535Ser
XM_011542991.1:c.1583T>G XP_011541293.1:p.Ile528Ser
XM_011542992.1:c.1604T>G XP_011541294.1:p.Ile535Ser
XM_011542993.1:c.1091T>G XP_011541295.1:p.Ile364Ser
XM_011542994.1:c.1091T>G XP_011541296.1:p.Ile364Ser
XM_011542995.1:c.1091T>G XP_011541297.1:p.Ile364Ser
XM_011542996.1:c.1091T>G XP_011541298.1:p.Ile364Ser
XM_011542997.1:c.1016T>G XP_011541299.1:p.Ile339Ser
XR_947863.1:n.1703T>G
XR_947864.1:n.1527T>G
XR_947865.1:n.1527T>G
NM_001352409.1:c.1070T>G NP_001339338.1:p.Ile357Ser
NM_001352410.1:c.1070T>G NP_001339339.1:p.Ile357Ser
NM_001352411.1:c.1070T>G NP_001339340.1:p.Ile357Ser
NM_001352412.1:c.1070T>G NP_001339341.1:p.Ile357Ser
NM_001352413.1:c.1091T>G NP_001339342.1:p.Ile364Ser
NM_001352414.1:c.1091T>G NP_001339343.1:p.Ile364Ser
NM_001352415.1:c.1070T>G NP_001339344.1:p.Ile357Ser
NM_001352416.1:c.1070T>G NP_001339345.1:p.Ile357Ser
NM_001352417.1:c.1583T>G NP_001339346.1:p.Ile528Ser
NM_001352418.1:c.1460T>G NP_001339347.1:p.Ile487Ser
NM_001352419.1:c.1091T>G NP_001339348.1:p.Ile364Ser
NM_001352420.1:c.1070T>G NP_001339349.1:p.Ile357Ser
NM_001352421.1:c.1070T>G NP_001339350.1:p.Ile357Ser
NM_001352422.1:c.995T>G NP_001339351.1:p.Ile332Ser
NM_001352423.1:c.947T>G NP_001339352.1:p.Ile316Ser
NR_147984.1:n.1980T>G
XM_005277723.5:c.1604T>G XP_005277780.1:p.Ile535Ser
XM_006718913.3:c.1604T>G XP_006718976.1:p.Ile535Ser
XM_011542992.2:c.1604T>G XP_011541294.1:p.Ile535Ser
XM_017018313.2:c.1583T>G XP_016873802.1:p.Ile528Ser
XM_017018314.2:c.1481T>G XP_016873803.1:p.Ile494Ser
XM_024448695.1:c.1583T>G XP_024304463.1:p.Ile528Ser
XR_001747967.2:n.1692T>G
XR_001747968.2:n.1671T>G
XR_001747969.2:n.1569T>G
XR_001747970.2:n.1671T>G
XR_001747971.1:n.2000T>G
XR_001747972.1:n.2004T>G
XR_001747973.1:n.1707T>G
XR_001747974.1:n.1820T>G
XR_001747975.1:n.1979T>G
XR_001747976.1:n.1983T>G
XR_001747977.1:n.1156T>G
XR_001747979.1:n.1959T>G
XR_001747980.1:n.1655T>G
XR_947863.3:n.1692T>G
XR_947864.2:n.1516T>G
XR_947865.2:n.1516T>G
NM_001077691.2:c.1091T>G NP_001071159.1:p.Ile364Ser
NM_001077692.2:c.1070T>G NP_001071160.1:p.Ile357Ser
NM_001352411.2:c.1070T>G NP_001339340.1:p.Ile357Ser
NM_001352412.2:c.1070T>G NP_001339341.1:p.Ile357Ser
NM_001352414.2:c.1091T>G NP_001339343.1:p.Ile364Ser
NM_001352420.2:c.1070T>G NP_001339349.1:p.Ile357Ser
NM_001352421.2:c.1070T>G NP_001339350.1:p.Ile357Ser
NM_001352422.2:c.995T>G NP_001339351.1:p.Ile332Ser
NM_001352423.2:c.947T>G NP_001339352.1:p.Ile316Ser
NR_147984.2:n.2000T>G