Canonical Allele Identifier: CA6274299
Community Standard Title: NM_024740.2(ALG9):c.1785T>C (p.Tyr595=)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111786469A>G , CM000673.2:g.111786469A>G GRCh38
NC_000011.9:g.111657193A>G , CM000673.1:g.111657193A>G GRCh37
NC_000011.8:g.111162403A>G NCBI36
NG_009210.1:g.90112T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.1785T>C MANE Select NP_079016.2:p.Tyr595=
ENST00000616540.5:c.1785T>C MANE Select ENSP00000482437.1:p.Tyr595=
NM_001077690.1:c.1764T>C NP_001071158.1:p.Tyr588=
NM_001077691.1:c.1272T>C NP_001071159.1:p.Tyr424=
NM_001077691.2:c.1272T>C NP_001071159.1:p.Tyr424=
NM_001077692.1:c.1251T>C NP_001071160.1:p.Tyr417=
NM_001077692.2:c.1251T>C NP_001071160.1:p.Tyr417=
NM_001352409.1:c.1251T>C NP_001339338.1:p.Tyr417=
NM_001352410.1:c.1251T>C NP_001339339.1:p.Tyr417=
NM_001352411.1:c.1251T>C NP_001339340.1:p.Tyr417=
NM_001352411.2:c.1251T>C NP_001339340.1:p.Tyr417=
NM_001352412.1:c.1251T>C NP_001339341.1:p.Tyr417=
NM_001352412.2:c.1251T>C NP_001339341.1:p.Tyr417=
NM_001352413.1:c.1272T>C NP_001339342.1:p.Tyr424=
NM_001352414.1:c.1272T>C NP_001339343.1:p.Tyr424=
NM_001352414.2:c.1272T>C NP_001339343.1:p.Tyr424=
NM_001352415.1:c.1251T>C NP_001339344.1:p.Tyr417=
NM_001352416.1:c.1251T>C NP_001339345.1:p.Tyr417=
NM_001352417.1:c.1764T>C NP_001339346.1:p.Tyr588=
NM_001352418.1:c.1641T>C NP_001339347.1:p.Tyr547=
NM_001352419.1:c.1272T>C NP_001339348.1:p.Tyr424=
NM_001352420.1:c.*57T>C NP_001339349.1:n.*57T>C
NM_001352420.2:c.*57T>C NP_001339349.1:n.*57T>C
NM_001352421.1:c.*51T>C NP_001339350.1:n.*51T>C
NM_001352421.2:c.*51T>C NP_001339350.1:n.*51T>C
NM_001352422.1:c.1176T>C NP_001339351.1:p.Tyr392=
NM_001352422.2:c.1176T>C NP_001339351.1:p.Tyr392=
NM_001352423.1:c.1128T>C NP_001339352.1:p.Tyr376=
NM_001352423.2:c.1128T>C NP_001339352.1:p.Tyr376=
NR_147984.1:n.2383T>C
NR_147984.2:n.2403T>C
ENST00000398006.6:c.1251T>C ENSP00000381090.2:p.Tyr417=
ENST00000524671.1:c.341T>C
ENST00000525910.1:c.202T>C
ENST00000526272.5:n.349T>C
ENST00000527212.5:n.304T>C
ENST00000531154.5:c.1272T>C ENSP00000435517.1:p.Tyr424=
ENST00000532425.6:c.518T>C
ENST00000614444.4:c.1764T>C ENSP00000484200.1:p.Tyr588=
ENST00000616540.4:c.1785T>C ENSP00000482437.1:p.Tyr595=
ENST00000619129.4:c.*1445T>C ENSP00000480661.1:n.*1445T>C
ENST00000622211.4:c.2463T>C ENSP00000482396.1:p.Tyr821=
XM_005277723.3:c.1785T>C XP_005277780.1:p.Tyr595=
XM_005277723.5:c.1785T>C XP_005277780.1:p.Tyr595=
XM_005277724.3:c.1764T>C XP_005277781.1:p.Tyr588=
XM_006718913.2:c.*51T>C XP_006718976.1:n.*51T>C
XM_006718913.3:c.*51T>C XP_006718976.1:n.*51T>C
XM_011542992.1:c.*57T>C XP_011541294.1:n.*57T>C
XM_011542992.2:c.*57T>C XP_011541294.1:n.*57T>C
XM_017018313.2:c.*57T>C XP_016873802.1:n.*57T>C
XM_017018314.2:c.1662T>C XP_016873803.1:p.Tyr554=
XM_024448695.1:c.*51T>C XP_024304463.1:n.*51T>C
XR_001747967.2:n.1873T>C
XR_001747968.2:n.1852T>C
XR_001747969.2:n.1750T>C
XR_001747970.2:n.2074T>C
XR_001747971.1:n.2181T>C
XR_001747972.1:n.2185T>C
XR_001747973.1:n.1888T>C
XR_001747974.1:n.2001T>C
XR_001747975.1:n.2160T>C
XR_001747976.1:n.2164T>C
XR_001747977.1:n.1337T>C
XR_001747979.1:n.2362T>C
XR_001747980.1:n.2058T>C
XR_947863.1:n.2106T>C
XR_947863.3:n.2095T>C
XR_947864.1:n.1708T>C
XR_947864.2:n.1697T>C
XR_947865.1:n.1837T>C
XR_947865.2:n.1826T>C