Canonical Allele Identifier: CA379092682

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774864A>G (hg19) ; chr11:g.1753634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753634A>G , CM000673.2:g.1753634A>G	GRCh38
NC_000011.9:g.1774864A>G , CM000673.1:g.1774864A>G	GRCh37
NC_000011.8:g.1731440A>G	NCBI36
NG_008655.1:g.15359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1108T>C MANE Select	ENSP00000236671.2:p.Phe370Leu
ENST00000367196.4:c.1003T>C	ENSP00000356164.4:p.Phe335Leu
ENST00000427721.3:c.533T>C
ENST00000429746.2:c.1003T>C	ENSP00000402586.2:p.Phe335Leu
ENST00000433655.6:c.*274T>C	ENSP00000404902.1:n.*274T>C
ENST00000438213.6:c.1225T>C	ENSP00000415036.2:p.Phe409Leu
ENST00000636397.1:c.1071+169T>C	ENSP00000489910.1:n.1071+169T>C
ENST00000636571.1:c.1087T>C	ENSP00000490770.1:p.Phe363Leu
ENST00000636579.1:c.72+169T>C	ENSP00000490489.1:n.72+169T>C
ENST00000636615.1:c.1071+169T>C	ENSP00000490014.1:n.1071+169T>C
ENST00000636843.1:c.1102T>C	ENSP00000490897.1:p.Phe368Leu
ENST00000637158.1:n.706T>C
ENST00000637381.2:n.3536T>C
ENST00000637387.1:c.1087T>C	ENSP00000490598.1:p.Phe363Leu
ENST00000637815.2:c.1090T>C	ENSP00000490344.1:p.Phe364Leu
ENST00000637915.1:c.1099T>C	ENSP00000490471.1:p.Phe367Leu
ENST00000637937.1:n.416T>C
ENST00000678991.1:c.*969T>C	ENSP00000503019.1:n.*969T>C
ENST00000236671.6:c.1108T>C	ENSP00000236671.2:p.Phe370Leu
ENST00000427721.2:c.471+169T>C	ENSP00000415840.2:n.471+169T>C
ENST00000429746.1:c.439T>C	ENSP00000402586.1:p.Phe147Leu
ENST00000433655.5:c.*274T>C	ENSP00000404902.1:n.*274T>C
NM_001909.4:c.1108T>C	NP_001900.1:p.Phe370Leu
NM_001909.5:c.1108T>C MANE Select	NP_001900.1:p.Phe370Leu