Canonical Allele Identifier: CA382591272

Gene: ALG9

Linked Data

• dbSNP Id: rs1955228939
• MyVariant Identifiers: chr11:g.111706911T>G (hg19) ; chr11:g.111836188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111836188T>G , CM000673.2:g.111836188T>G	GRCh38
NC_000011.9:g.111706911T>G , CM000673.1:g.111706911T>G	GRCh37
NC_000011.8:g.111212121T>G	NCBI36
NG_009210.1:g.40394A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000616540.5:c.1579A>C MANE Select	ENSP00000482437.1:p.Asn527His
ENST00000398006.6:c.1045A>C	ENSP00000381090.2:p.Asn349His
ENST00000526272.5:n.143A>C
ENST00000530851.6:n.537+17192A>C
ENST00000531154.5:c.1066A>C	ENSP00000435517.1:p.Asn356His
ENST00000532425.6:c.312A>C
ENST00000614444.4:c.1558A>C	ENSP00000484200.1:p.Asn520His
ENST00000616540.4:c.1579A>C	ENSP00000482437.1:p.Asn527His
ENST00000619129.4:c.*1110A>C	ENSP00000480661.1:n.*1110A>C
ENST00000622211.4:c.2257A>C	ENSP00000482396.1:p.Asn753His
NM_001077690.1:c.1558A>C	NP_001071158.1:p.Asn520His
NM_001077691.1:c.1066A>C	NP_001071159.1:p.Asn356His
NM_001077692.1:c.1045A>C	NP_001071160.1:p.Asn349His
NM_024740.2:c.1579A>C MANE Select	NP_079016.2:p.Asn527His
XM_005277723.3:c.1579A>C	XP_005277780.1:p.Asn527His
XM_005277724.3:c.1558A>C	XP_005277781.1:p.Asn520His
XM_006718913.2:c.1579A>C	XP_006718976.1:p.Asn527His
XM_011542990.1:c.1579A>C	XP_011541292.1:p.Asn527His
XM_011542991.1:c.1558A>C	XP_011541293.1:p.Asn520His
XM_011542992.1:c.1579A>C	XP_011541294.1:p.Asn527His
XM_011542993.1:c.1066A>C	XP_011541295.1:p.Asn356His
XM_011542994.1:c.1066A>C	XP_011541296.1:p.Asn356His
XM_011542995.1:c.1066A>C	XP_011541297.1:p.Asn356His
XM_011542996.1:c.1066A>C	XP_011541298.1:p.Asn356His
XM_011542997.1:c.991A>C	XP_011541299.1:p.Asn331His
XR_947863.1:n.1678A>C
XR_947864.1:n.1502A>C
XR_947865.1:n.1502A>C
NM_001352409.1:c.1045A>C	NP_001339338.1:p.Asn349His
NM_001352410.1:c.1045A>C	NP_001339339.1:p.Asn349His
NM_001352411.1:c.1045A>C	NP_001339340.1:p.Asn349His
NM_001352412.1:c.1045A>C	NP_001339341.1:p.Asn349His
NM_001352413.1:c.1066A>C	NP_001339342.1:p.Asn356His
NM_001352414.1:c.1066A>C	NP_001339343.1:p.Asn356His
NM_001352415.1:c.1045A>C	NP_001339344.1:p.Asn349His
NM_001352416.1:c.1045A>C	NP_001339345.1:p.Asn349His
NM_001352417.1:c.1558A>C	NP_001339346.1:p.Asn520His
NM_001352418.1:c.1435A>C	NP_001339347.1:p.Asn479His
NM_001352419.1:c.1066A>C	NP_001339348.1:p.Asn356His
NM_001352420.1:c.1045A>C	NP_001339349.1:p.Asn349His
NM_001352421.1:c.1045A>C	NP_001339350.1:p.Asn349His
NM_001352422.1:c.970A>C	NP_001339351.1:p.Asn324His
NM_001352423.1:c.922A>C	NP_001339352.1:p.Asn308His
NR_147984.1:n.1955A>C
XM_005277723.5:c.1579A>C	XP_005277780.1:p.Asn527His
XM_006718913.3:c.1579A>C	XP_006718976.1:p.Asn527His
XM_011542992.2:c.1579A>C	XP_011541294.1:p.Asn527His
XM_017018313.2:c.1558A>C	XP_016873802.1:p.Asn520His
XM_017018314.2:c.1456A>C	XP_016873803.1:p.Asn486His
XM_024448695.1:c.1558A>C	XP_024304463.1:p.Asn520His
XR_001747967.2:n.1667A>C
XR_001747968.2:n.1646A>C
XR_001747969.2:n.1544A>C
XR_001747970.2:n.1646A>C
XR_001747971.1:n.1975A>C
XR_001747972.1:n.1979A>C
XR_001747973.1:n.1682A>C
XR_001747974.1:n.1795A>C
XR_001747975.1:n.1954A>C
XR_001747976.1:n.1958A>C
XR_001747977.1:n.1131A>C
XR_001747979.1:n.1934A>C
XR_001747980.1:n.1630A>C
XR_947863.3:n.1667A>C
XR_947864.2:n.1491A>C
XR_947865.2:n.1491A>C
NM_001077691.2:c.1066A>C	NP_001071159.1:p.Asn356His
NM_001077692.2:c.1045A>C	NP_001071160.1:p.Asn349His
NM_001352411.2:c.1045A>C	NP_001339340.1:p.Asn349His
NM_001352412.2:c.1045A>C	NP_001339341.1:p.Asn349His
NM_001352414.2:c.1066A>C	NP_001339343.1:p.Asn356His
NM_001352420.2:c.1045A>C	NP_001339349.1:p.Asn349His
NM_001352421.2:c.1045A>C	NP_001339350.1:p.Asn349His
NM_001352422.2:c.970A>C	NP_001339351.1:p.Asn324His
NM_001352423.2:c.922A>C	NP_001339352.1:p.Asn308His
NR_147984.2:n.1975A>C