Canonical Allele Identifier: CA6274548
Community Standard Title: NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)
Gene: ALG9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111853460T>C , CM000673.2:g.111853460T>C GRCh38
NC_000011.9:g.111724183T>C , CM000673.1:g.111724183T>C GRCh37
NC_000011.8:g.111229393T>C NCBI36
NG_009210.1:g.23122A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024740.2:c.815A>G MANE Select NP_079016.2:p.Tyr272Cys
ENST00000616540.5:c.815A>G MANE Select ENSP00000482437.1:p.Tyr272Cys
NM_001077690.1:c.815A>G NP_001071158.1:p.Tyr272Cys
NM_001077691.1:c.302A>G NP_001071159.1:p.Tyr101Cys
NM_001077691.2:c.302A>G NP_001071159.1:p.Tyr101Cys
NM_001077692.1:c.302A>G NP_001071160.1:p.Tyr101Cys
NM_001077692.2:c.302A>G NP_001071160.1:p.Tyr101Cys
NM_001352409.1:c.302A>G NP_001339338.1:p.Tyr101Cys
NM_001352410.1:c.302A>G NP_001339339.1:p.Tyr101Cys
NM_001352411.1:c.302A>G NP_001339340.1:p.Tyr101Cys
NM_001352411.2:c.302A>G NP_001339340.1:p.Tyr101Cys
NM_001352412.1:c.302A>G NP_001339341.1:p.Tyr101Cys
NM_001352412.2:c.302A>G NP_001339341.1:p.Tyr101Cys
NM_001352413.1:c.302A>G NP_001339342.1:p.Tyr101Cys
NM_001352414.1:c.302A>G NP_001339343.1:p.Tyr101Cys
NM_001352414.2:c.302A>G NP_001339343.1:p.Tyr101Cys
NM_001352415.1:c.302A>G NP_001339344.1:p.Tyr101Cys
NM_001352416.1:c.302A>G NP_001339345.1:p.Tyr101Cys
NM_001352417.1:c.815A>G NP_001339346.1:p.Tyr272Cys
NM_001352418.1:c.815A>G NP_001339347.1:p.Tyr272Cys
NM_001352419.1:c.302A>G NP_001339348.1:p.Tyr101Cys
NM_001352420.1:c.302A>G NP_001339349.1:p.Tyr101Cys
NM_001352420.2:c.302A>G NP_001339349.1:p.Tyr101Cys
NM_001352421.1:c.302A>G NP_001339350.1:p.Tyr101Cys
NM_001352421.2:c.302A>G NP_001339350.1:p.Tyr101Cys
NM_001352422.1:c.227A>G NP_001339351.1:p.Tyr76Cys
NM_001352422.2:c.227A>G NP_001339351.1:p.Tyr76Cys
NM_001352423.1:c.302A>G NP_001339352.1:p.Tyr101Cys
NM_001352423.2:c.302A>G NP_001339352.1:p.Tyr101Cys
NR_147984.1:n.1191A>G
NR_147984.2:n.1211A>G
ENST00000398006.6:c.302A>G ENSP00000381090.2:p.Tyr101Cys
ENST00000527714.5:n.457A>G
ENST00000530851.6:n.457A>G
ENST00000531154.5:c.302A>G ENSP00000435517.1:p.Tyr101Cys
ENST00000613181.4:c.*237A>G ENSP00000479335.1:n.*237A>G
ENST00000614444.4:c.815A>G ENSP00000484200.1:p.Tyr272Cys
ENST00000616540.4:c.815A>G ENSP00000482437.1:p.Tyr272Cys
ENST00000618252.1:c.*82A>G ENSP00000482975.1:n.*82A>G
ENST00000619129.4:c.*367A>G ENSP00000480661.1:n.*367A>G
ENST00000622211.4:c.1514A>G ENSP00000482396.1:p.Tyr505Cys
XM_005277723.3:c.815A>G XP_005277780.1:p.Tyr272Cys
XM_005277723.5:c.815A>G XP_005277780.1:p.Tyr272Cys
XM_005277724.3:c.815A>G XP_005277781.1:p.Tyr272Cys
XM_006718913.2:c.815A>G XP_006718976.1:p.Tyr272Cys
XM_006718913.3:c.815A>G XP_006718976.1:p.Tyr272Cys
XM_011542990.1:c.815A>G XP_011541292.1:p.Tyr272Cys
XM_011542991.1:c.815A>G XP_011541293.1:p.Tyr272Cys
XM_011542992.1:c.815A>G XP_011541294.1:p.Tyr272Cys
XM_011542992.2:c.815A>G XP_011541294.1:p.Tyr272Cys
XM_011542993.1:c.302A>G XP_011541295.1:p.Tyr101Cys
XM_011542994.1:c.302A>G XP_011541296.1:p.Tyr101Cys
XM_011542995.1:c.302A>G XP_011541297.1:p.Tyr101Cys
XM_011542996.1:c.302A>G XP_011541298.1:p.Tyr101Cys
XM_011542997.1:c.227A>G XP_011541299.1:p.Tyr76Cys
XM_017018313.2:c.815A>G XP_016873802.1:p.Tyr272Cys
XM_017018314.2:c.815A>G XP_016873803.1:p.Tyr272Cys
XM_024448695.1:c.815A>G XP_024304463.1:p.Tyr272Cys
XR_001747967.2:n.903A>G
XR_001747968.2:n.903A>G
XR_001747969.2:n.903A>G
XR_001747970.2:n.903A>G
XR_001747971.1:n.1211A>G
XR_001747972.1:n.1215A>G
XR_001747973.1:n.918A>G
XR_001747974.1:n.1031A>G
XR_001747975.1:n.1211A>G
XR_001747976.1:n.1215A>G
XR_001747977.1:n.367A>G
XR_001747979.1:n.1191A>G
XR_001747980.1:n.887A>G
XR_947863.1:n.914A>G
XR_947863.3:n.903A>G
XR_947864.1:n.914A>G
XR_947864.2:n.903A>G
XR_947865.1:n.914A>G
XR_947865.2:n.903A>G