Canonical Allele Identifier: CA6274298
Community Standard Title: NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111786462A>G , CM000673.2:g.111786462A>G GRCh38
NC_000011.9:g.111657186A>G , CM000673.1:g.111657186A>G GRCh37
NC_000011.8:g.111162396A>G NCBI36
NG_009210.1:g.90119T>C

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.1792T>C MANE Select NP_079016.2:p.Tyr598His
ENST00000616540.5:c.1792T>C MANE Select ENSP00000482437.1:p.Tyr598His
NM_001077690.1:c.1771T>C NP_001071158.1:p.Tyr591His
NM_001077691.1:c.1279T>C NP_001071159.1:p.Tyr427His
NM_001077691.2:c.1279T>C NP_001071159.1:p.Tyr427His
NM_001077692.1:c.1258T>C NP_001071160.1:p.Tyr420His
NM_001077692.2:c.1258T>C NP_001071160.1:p.Tyr420His
NM_001352409.1:c.1258T>C NP_001339338.1:p.Tyr420His
NM_001352410.1:c.1258T>C NP_001339339.1:p.Tyr420His
NM_001352411.1:c.1258T>C NP_001339340.1:p.Tyr420His
NM_001352411.2:c.1258T>C NP_001339340.1:p.Tyr420His
NM_001352412.1:c.1258T>C NP_001339341.1:p.Tyr420His
NM_001352412.2:c.1258T>C NP_001339341.1:p.Tyr420His
NM_001352413.1:c.1279T>C NP_001339342.1:p.Tyr427His
NM_001352414.1:c.1279T>C NP_001339343.1:p.Tyr427His
NM_001352414.2:c.1279T>C NP_001339343.1:p.Tyr427His
NM_001352415.1:c.1258T>C NP_001339344.1:p.Tyr420His
NM_001352416.1:c.1258T>C NP_001339345.1:p.Tyr420His
NM_001352417.1:c.1771T>C NP_001339346.1:p.Tyr591His
NM_001352418.1:c.1648T>C NP_001339347.1:p.Tyr550His
NM_001352419.1:c.1279T>C NP_001339348.1:p.Tyr427His
NM_001352420.1:c.*64T>C NP_001339349.1:n.*64T>C
NM_001352420.2:c.*64T>C NP_001339349.1:n.*64T>C
NM_001352421.1:c.*58T>C NP_001339350.1:n.*58T>C
NM_001352421.2:c.*58T>C NP_001339350.1:n.*58T>C
NM_001352422.1:c.1183T>C NP_001339351.1:p.Tyr395His
NM_001352422.2:c.1183T>C NP_001339351.1:p.Tyr395His
NM_001352423.1:c.1135T>C NP_001339352.1:p.Tyr379His
NM_001352423.2:c.1135T>C NP_001339352.1:p.Tyr379His
NR_147984.1:n.2390T>C
NR_147984.2:n.2410T>C
ENST00000398006.6:c.1258T>C ENSP00000381090.2:p.Tyr420His
ENST00000524671.1:c.348T>C
ENST00000525910.1:c.209T>C
ENST00000526272.5:n.356T>C
ENST00000527212.5:n.311T>C
ENST00000531154.5:c.1279T>C ENSP00000435517.1:p.Tyr427His
ENST00000532425.6:c.525T>C
ENST00000614444.4:c.1771T>C ENSP00000484200.1:p.Tyr591His
ENST00000616540.4:c.1792T>C ENSP00000482437.1:p.Tyr598His
ENST00000619129.4:c.*1452T>C ENSP00000480661.1:n.*1452T>C
ENST00000622211.4:c.2470T>C ENSP00000482396.1:p.Tyr824His
XM_005277723.3:c.1792T>C XP_005277780.1:p.Tyr598His
XM_005277723.5:c.1792T>C XP_005277780.1:p.Tyr598His
XM_005277724.3:c.1771T>C XP_005277781.1:p.Tyr591His
XM_006718913.2:c.*58T>C XP_006718976.1:n.*58T>C
XM_006718913.3:c.*58T>C XP_006718976.1:n.*58T>C
XM_011542992.1:c.*64T>C XP_011541294.1:n.*64T>C
XM_011542992.2:c.*64T>C XP_011541294.1:n.*64T>C
XM_017018313.2:c.*64T>C XP_016873802.1:n.*64T>C
XM_017018314.2:c.1669T>C XP_016873803.1:p.Tyr557His
XM_024448695.1:c.*58T>C XP_024304463.1:n.*58T>C
XR_001747967.2:n.1880T>C
XR_001747968.2:n.1859T>C
XR_001747969.2:n.1757T>C
XR_001747970.2:n.2081T>C
XR_001747971.1:n.2188T>C
XR_001747972.1:n.2192T>C
XR_001747973.1:n.1895T>C
XR_001747974.1:n.2008T>C
XR_001747975.1:n.2167T>C
XR_001747976.1:n.2171T>C
XR_001747977.1:n.1344T>C
XR_001747979.1:n.2369T>C
XR_001747980.1:n.2065T>C
XR_947863.1:n.2113T>C
XR_947863.3:n.2102T>C
XR_947864.1:n.1715T>C
XR_947864.2:n.1704T>C
XR_947865.1:n.1844T>C
XR_947865.2:n.1833T>C