Canonical Allele Identifier: CA377586891

Gene: IDE

Linked Data

• dbSNP Id: rs1229855848
• gnomAD v2: 10-94268644-G-A
• gnomAD v4: 10-92508887-G-A
• MyVariant Identifiers: chr10:g.94268644G>A (hg19) ; chr10:g.92508887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92508887G>A , CM000672.2:g.92508887G>A	GRCh38
NC_000010.10:g.94268644G>A , CM000672.1:g.94268644G>A	GRCh37
NC_000010.9:g.94258624G>A	NCBI36
NG_013012.1:g.70209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650060.2:c.901C>T	ENSP00000497272.1:p.Leu301Phe
ENST00000265986.11:c.901C>T MANE Select	ENSP00000265986.6:p.Leu301Phe
ENST00000650060.1:c.901C>T	ENSP00000497272.1:p.Leu301Phe
ENST00000676540.1:c.901C>T	ENSP00000504633.1:p.Leu301Phe
ENST00000676626.1:n.1518C>T
ENST00000676816.1:c.901C>T	ENSP00000504709.1:p.Leu301Phe
ENST00000677079.1:c.901C>T	ENSP00000503417.1:p.Leu301Phe
ENST00000677096.1:c.*897C>T	ENSP00000503793.1:n.*897C>T
ENST00000677196.1:n.978C>T
ENST00000677434.1:c.901C>T	ENSP00000503274.1:p.Leu301Phe
ENST00000677569.1:c.901C>T	ENSP00000503462.1:p.Leu301Phe
ENST00000677953.1:n.978C>T
ENST00000677978.1:c.901C>T	ENSP00000503310.1:p.Leu301Phe
ENST00000678026.1:n.1518C>T
ENST00000678248.1:n.978C>T
ENST00000678458.1:n.893C>T
ENST00000678673.1:c.901C>T	ENSP00000503082.1:p.Leu301Phe
ENST00000678715.1:c.778C>T	ENSP00000503025.1:p.Leu260Phe
ENST00000678844.1:c.901C>T	ENSP00000504561.1:p.Leu301Phe
ENST00000678977.1:n.978C>T
ENST00000679069.1:n.978C>T
ENST00000679089.1:c.901C>T	ENSP00000504067.1:p.Leu301Phe
ENST00000679174.1:c.901C>T	ENSP00000504758.1:p.Leu301Phe
ENST00000679222.1:c.901C>T	ENSP00000504070.1:p.Leu301Phe
ENST00000679232.1:c.901C>T	ENSP00000503818.1:p.Leu301Phe
ENST00000679312.1:c.901C>T	ENSP00000504442.1:p.Leu301Phe
ENST00000265986.10:c.901C>T	ENSP00000265986.6:p.Leu301Phe
ENST00000478361.6:c.*1111C>T	ENSP00000473506.1:n.*1111C>T
NM_004969.3:c.901C>T	NP_004960.2:p.Leu301Phe
XM_005269766.2:c.901C>T	XP_005269823.1:p.Leu301Phe
XM_005269769.3:c.901C>T	XP_005269826.1:p.Leu301Phe
XR_945727.1:n.975C>T
NM_001322793.1:c.901C>T	NP_001309722.1:p.Leu301Phe
NM_001322794.1:c.784C>T	NP_001309723.1:p.Leu262Phe
NM_001322795.1:c.778C>T	NP_001309724.1:p.Leu260Phe
NM_001322796.1:c.778C>T	NP_001309725.1:p.Leu260Phe
NR_136399.1:n.977C>T
XM_017016187.1:c.778C>T	XP_016871676.1:p.Leu260Phe
XM_017016188.1:c.778C>T	XP_016871677.1:p.Leu260Phe
XM_017016189.1:c.778C>T	XP_016871678.1:p.Leu260Phe
XM_017016190.1:c.778C>T	XP_016871679.1:p.Leu260Phe
XR_001747103.2:n.975C>T
XR_945727.3:n.975C>T
NM_004969.4:c.901C>T MANE Select	NP_004960.2:p.Leu301Phe
NM_001322793.2:c.901C>T	NP_001309722.1:p.Leu301Phe
NM_001322794.2:c.784C>T	NP_001309723.1:p.Leu262Phe
NM_001322795.2:c.778C>T	NP_001309724.1:p.Leu260Phe
NR_136399.2:n.975C>T