Canonical Allele Identifier: CA379092346

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774756A>G (hg19) ; chr11:g.1753526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753526A>G , CM000673.2:g.1753526A>G	GRCh38
NC_000011.9:g.1774756A>G , CM000673.1:g.1774756A>G	GRCh37
NC_000011.8:g.1731332A>G	NCBI36
NG_008655.1:g.15467T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1216T>C MANE Select	ENSP00000236671.2:p.Phe406Leu
ENST00000367196.4:c.1111T>C	ENSP00000356164.4:p.Phe371Leu
ENST00000427721.3:c.634+7T>C
ENST00000429746.2:c.1111T>C	ENSP00000402586.2:p.Phe371Leu
ENST00000433655.6:c.*382T>C	ENSP00000404902.1:n.*382T>C
ENST00000438213.6:c.1333T>C	ENSP00000415036.2:p.Phe445Leu
ENST00000636397.1:c.1071+277T>C	ENSP00000489910.1:n.1071+277T>C
ENST00000636571.1:c.1195T>C	ENSP00000490770.1:p.Phe399Leu
ENST00000636579.1:c.72+277T>C	ENSP00000490489.1:n.72+277T>C
ENST00000636615.1:c.1071+277T>C	ENSP00000490014.1:n.1071+277T>C
ENST00000636843.1:c.1210T>C	ENSP00000490897.1:p.Phe404Leu
ENST00000637158.1:n.814T>C
ENST00000637381.2:n.3644T>C
ENST00000637387.1:c.1195T>C	ENSP00000490598.1:p.Phe399Leu
ENST00000637815.2:c.1198T>C	ENSP00000490344.1:p.Phe400Leu
ENST00000637915.1:c.1207T>C	ENSP00000490471.1:p.Phe403Leu
ENST00000637937.1:n.524T>C
ENST00000678991.1:c.*1077T>C	ENSP00000503019.1:n.*1077T>C
ENST00000236671.6:c.1216T>C	ENSP00000236671.2:p.Phe406Leu
ENST00000427721.2:c.471+277T>C	ENSP00000415840.2:n.471+277T>C
ENST00000429746.1:c.547T>C	ENSP00000402586.1:p.Phe183Leu
ENST00000433655.5:c.*382T>C	ENSP00000404902.1:n.*382T>C
NM_001909.4:c.1216T>C	NP_001900.1:p.Phe406Leu
NM_001909.5:c.1216T>C MANE Select	NP_001900.1:p.Phe406Leu