Canonical Allele Identifier: CA379092754

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774884T>G (hg19) ; chr11:g.1753654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753654T>G , CM000673.2:g.1753654T>G	GRCh38
NC_000011.9:g.1774884T>G , CM000673.1:g.1774884T>G	GRCh37
NC_000011.8:g.1731460T>G	NCBI36
NG_008655.1:g.15339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1088A>C MANE Select	ENSP00000236671.2:p.Lys363Thr
ENST00000367196.4:c.983A>C	ENSP00000356164.4:p.Lys328Thr
ENST00000427721.3:c.513A>C
ENST00000429746.2:c.983A>C	ENSP00000402586.2:p.Lys328Thr
ENST00000433655.6:c.*254A>C	ENSP00000404902.1:n.*254A>C
ENST00000438213.6:c.1205A>C	ENSP00000415036.2:p.Lys402Thr
ENST00000497544.3:n.796A>C
ENST00000636397.1:c.1071+149A>C	ENSP00000489910.1:n.1071+149A>C
ENST00000636571.1:c.1067A>C	ENSP00000490770.1:p.Lys356Thr
ENST00000636579.1:c.72+149A>C	ENSP00000490489.1:n.72+149A>C
ENST00000636615.1:c.1071+149A>C	ENSP00000490014.1:n.1071+149A>C
ENST00000636843.1:c.1082A>C	ENSP00000490897.1:p.Lys361Thr
ENST00000637158.1:n.686A>C
ENST00000637381.2:n.3516A>C
ENST00000637387.1:c.1067A>C	ENSP00000490598.1:p.Lys356Thr
ENST00000637815.2:c.1070A>C	ENSP00000490344.1:p.Lys357Thr
ENST00000637915.1:c.1079A>C	ENSP00000490471.1:p.Lys360Thr
ENST00000637937.1:n.396A>C
ENST00000678991.1:c.*949A>C	ENSP00000503019.1:n.*949A>C
ENST00000236671.6:c.1088A>C	ENSP00000236671.2:p.Lys363Thr
ENST00000427721.2:c.471+149A>C	ENSP00000415840.2:n.471+149A>C
ENST00000429746.1:c.419A>C	ENSP00000402586.1:p.Lys140Thr
ENST00000433655.5:c.*254A>C	ENSP00000404902.1:n.*254A>C
NM_001909.4:c.1088A>C	NP_001900.1:p.Lys363Thr
NM_001909.5:c.1088A>C MANE Select	NP_001900.1:p.Lys363Thr