Canonical Allele Identifier: CA228560550
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111870283A>G , CM000673.2:g.111870283A>G GRCh38
NC_000011.9:g.111741006A>G , CM000673.1:g.111741006A>G GRCh37
NC_000011.8:g.111246216A>G NCBI36
NG_009210.1:g.6299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000616540.5:c.219T>C MANE Select ENSP00000482437.1:p.Ala73=
ENST00000398006.6:c.-295T>C ENSP00000381090.2:n.-295T>C
ENST00000526587.2:c.175T>C
ENST00000530723.1:n.431T>C
ENST00000531154.5:c.-295T>C ENSP00000435517.1:n.-295T>C
ENST00000612489.1:c.219T>C ENSP00000478246.1:p.Ala73=
ENST00000613181.4:c.219T>C ENSP00000479335.1:p.Ala73=
ENST00000614444.4:c.219T>C ENSP00000484200.1:p.Ala73=
ENST00000616540.4:c.219T>C ENSP00000482437.1:p.Ala73=
ENST00000618252.1:c.219T>C ENSP00000482975.1:p.Ala73=
ENST00000619129.4:c.131+1069T>C ENSP00000480661.1:n.131+1069T>C
ENST00000622211.4:c.918T>C ENSP00000482396.1:p.Ala306=
NM_001077690.1:c.219T>C NP_001071158.1:p.Ala73=
NM_001077691.1:c.-295T>C NP_001071159.1:n.-295T>C
NM_001077692.1:c.-295T>C NP_001071160.1:n.-295T>C
NM_024740.2:c.219T>C MANE Select NP_079016.2:p.Ala73=
XM_005277723.3:c.219T>C XP_005277780.1:p.Ala73=
XM_005277724.3:c.219T>C XP_005277781.1:p.Ala73=
XM_006718913.2:c.219T>C XP_006718976.1:p.Ala73=
XM_011542990.1:c.219T>C XP_011541292.1:p.Ala73=
XM_011542991.1:c.219T>C XP_011541293.1:p.Ala73=
XM_011542992.1:c.219T>C XP_011541294.1:p.Ala73=
XM_011542993.1:c.-295T>C XP_011541295.1:n.-295T>C
XM_011542994.1:c.-299T>C XP_011541296.1:n.-299T>C
XM_011542995.1:c.-299T>C XP_011541297.1:n.-299T>C
XM_011542996.1:c.-299T>C XP_011541298.1:n.-299T>C
XR_947863.1:n.318T>C
XR_947864.1:n.318T>C
XR_947865.1:n.318T>C
NM_001352409.1:c.-244+1069T>C NP_001339338.1:n.-244+1069T>C
NM_001352410.1:c.-299T>C NP_001339339.1:n.-299T>C
NM_001352411.1:c.-299T>C NP_001339340.1:n.-299T>C
NM_001352412.1:c.-295T>C NP_001339341.1:n.-295T>C
NM_001352413.1:c.-299T>C NP_001339342.1:n.-299T>C
NM_001352414.1:c.-295T>C NP_001339343.1:n.-295T>C
NM_001352415.1:c.-299T>C NP_001339344.1:n.-299T>C
NM_001352416.1:c.-295T>C NP_001339345.1:n.-295T>C
NM_001352417.1:c.219T>C NP_001339346.1:p.Ala73=
NM_001352418.1:c.219T>C NP_001339347.1:p.Ala73=
NM_001352419.1:c.-295T>C NP_001339348.1:n.-295T>C
NM_001352420.1:c.-295T>C NP_001339349.1:n.-295T>C
NM_001352421.1:c.-295T>C NP_001339350.1:n.-295T>C
NM_001352422.1:c.-513T>C NP_001339351.1:n.-513T>C
NM_001352423.1:c.-299T>C NP_001339352.1:n.-299T>C
NR_147984.1:n.595T>C
XM_005277723.5:c.219T>C XP_005277780.1:p.Ala73=
XM_006718913.3:c.219T>C XP_006718976.1:p.Ala73=
XM_011542992.2:c.219T>C XP_011541294.1:p.Ala73=
XM_017018313.2:c.219T>C XP_016873802.1:p.Ala73=
XM_017018314.2:c.219T>C XP_016873803.1:p.Ala73=
XM_024448695.1:c.219T>C XP_024304463.1:p.Ala73=
XR_001747967.2:n.307T>C
XR_001747968.2:n.307T>C
XR_001747969.2:n.307T>C
XR_001747970.2:n.307T>C
XR_001747971.1:n.615T>C
XR_001747972.1:n.615T>C
XR_001747973.1:n.318T>C
XR_001747974.1:n.431T>C
XR_001747975.1:n.615T>C
XR_001747976.1:n.615T>C
XR_001747979.1:n.591T>C
XR_001747980.1:n.287T>C
XR_947863.3:n.307T>C
XR_947864.2:n.307T>C
XR_947865.2:n.307T>C
NM_001077691.2:c.-295T>C NP_001071159.1:n.-295T>C
NM_001077692.2:c.-295T>C NP_001071160.1:n.-295T>C
NM_001352411.2:c.-299T>C NP_001339340.1:n.-299T>C
NM_001352412.2:c.-295T>C NP_001339341.1:n.-295T>C
NM_001352414.2:c.-295T>C NP_001339343.1:n.-295T>C
NM_001352420.2:c.-295T>C NP_001339349.1:n.-295T>C
NM_001352421.2:c.-295T>C NP_001339350.1:n.-295T>C
NM_001352422.2:c.-513T>C NP_001339351.1:n.-513T>C
NM_001352423.2:c.-299T>C NP_001339352.1:n.-299T>C
NR_147984.2:n.615T>C