Canonical Allele Identifier: CA470784952

Gene: IDE

Linked Data

• dbSNP Id: rs2135540913
• MyVariant Identifiers: chr10:g.94268492C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92508735C>T , CM000672.2:g.92508735C>T	GRCh38
NC_000010.10:g.94268492C>T , CM000672.1:g.94268492C>T	GRCh37
NC_000010.9:g.94258472C>T	NCBI36
NG_013012.1:g.70361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650060.2:c.1053G>A	ENSP00000497272.1:p.Lys351=
ENST00000265986.11:c.1053G>A MANE Select	ENSP00000265986.6:p.Lys351=
ENST00000650060.1:c.1053G>A	ENSP00000497272.1:p.Lys351=
ENST00000676540.1:c.1053G>A	ENSP00000504633.1:p.Lys351=
ENST00000676626.1:n.1670G>A
ENST00000676816.1:c.1053G>A	ENSP00000504709.1:p.Lys351=
ENST00000677079.1:c.1053G>A	ENSP00000503417.1:p.Lys351=
ENST00000677096.1:c.*1049G>A	ENSP00000503793.1:n.*1049G>A
ENST00000677196.1:n.1130G>A
ENST00000677434.1:c.1053G>A	ENSP00000503274.1:p.Lys351=
ENST00000677569.1:c.1053G>A	ENSP00000503462.1:p.Lys351=
ENST00000677953.1:n.1130G>A
ENST00000677978.1:c.1053G>A	ENSP00000503310.1:p.Lys351=
ENST00000678026.1:n.1670G>A
ENST00000678248.1:n.1130G>A
ENST00000678458.1:n.1045G>A
ENST00000678673.1:c.1053G>A	ENSP00000503082.1:p.Lys351=
ENST00000678715.1:c.930G>A	ENSP00000503025.1:p.Lys310=
ENST00000678844.1:c.1053G>A	ENSP00000504561.1:p.Lys351=
ENST00000678977.1:n.1130G>A
ENST00000679069.1:n.1130G>A
ENST00000679089.1:c.1053G>A	ENSP00000504067.1:p.Lys351=
ENST00000679174.1:c.1053G>A	ENSP00000504758.1:p.Lys351=
ENST00000679222.1:c.1053G>A	ENSP00000504070.1:p.Lys351=
ENST00000679232.1:c.1053G>A	ENSP00000503818.1:p.Lys351=
ENST00000679312.1:c.1053G>A	ENSP00000504442.1:p.Lys351=
ENST00000265986.10:c.1053G>A	ENSP00000265986.6:p.Lys351=
ENST00000478361.6:c.*1263G>A	ENSP00000473506.1:n.*1263G>A
NM_004969.3:c.1053G>A	NP_004960.2:p.Lys351=
XM_005269766.2:c.1053G>A	XP_005269823.1:p.Lys351=
XM_005269769.3:c.1053G>A	XP_005269826.1:p.Lys351=
XR_945727.1:n.1127G>A
NM_001322793.1:c.1053G>A	NP_001309722.1:p.Lys351=
NM_001322794.1:c.936G>A	NP_001309723.1:p.Lys312=
NM_001322795.1:c.930G>A	NP_001309724.1:p.Lys310=
NM_001322796.1:c.930G>A	NP_001309725.1:p.Lys310=
NR_136399.1:n.1129G>A
XM_017016187.1:c.930G>A	XP_016871676.1:p.Lys310=
XM_017016188.1:c.930G>A	XP_016871677.1:p.Lys310=
XM_017016189.1:c.930G>A	XP_016871678.1:p.Lys310=
XM_017016190.1:c.930G>A	XP_016871679.1:p.Lys310=
XR_001747103.2:n.1127G>A
XR_945727.3:n.1127G>A
NM_004969.4:c.1053G>A MANE Select	NP_004960.2:p.Lys351=
NM_001322793.2:c.1053G>A	NP_001309722.1:p.Lys351=
NM_001322794.2:c.936G>A	NP_001309723.1:p.Lys312=
NM_001322795.2:c.930G>A	NP_001309724.1:p.Lys310=
NR_136399.2:n.1127G>A