Canonical Allele Identifier: CA379095990

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778632T>G (hg19) ; chr11:g.1757402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757402T>G , CM000673.2:g.1757402T>G	GRCh38
NC_000011.9:g.1778632T>G , CM000673.1:g.1778632T>G	GRCh37
NC_000011.8:g.1735208T>G	NCBI36
NG_008655.1:g.11591A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.626A>C MANE Select	ENSP00000236671.2:p.Asn209Thr
ENST00000367196.4:c.521A>C	ENSP00000356164.4:p.Asn174Thr
ENST00000427721.3:c.51A>C
ENST00000429746.2:c.521A>C	ENSP00000402586.2:p.Asn174Thr
ENST00000433655.6:c.626A>C	ENSP00000404902.1:p.Asn209Thr
ENST00000438213.6:c.626A>C	ENSP00000415036.2:p.Asn209Thr
ENST00000636397.1:c.626A>C	ENSP00000489910.1:p.Asn209Thr
ENST00000636571.1:c.605A>C	ENSP00000490770.1:p.Asn202Thr
ENST00000636615.1:c.626A>C	ENSP00000490014.1:p.Asn209Thr
ENST00000636843.1:c.620A>C	ENSP00000490897.1:p.Asn207Thr
ENST00000637158.1:n.224A>C
ENST00000637381.2:n.3054A>C
ENST00000637387.1:c.626A>C	ENSP00000490598.1:p.Asn209Thr
ENST00000637815.2:c.626A>C	ENSP00000490344.1:p.Asn209Thr
ENST00000637915.1:c.626A>C	ENSP00000490471.1:p.Asn209Thr
ENST00000677300.1:n.1021A>C
ENST00000678991.1:c.*487A>C	ENSP00000503019.1:n.*487A>C
ENST00000236671.6:c.626A>C	ENSP00000236671.2:p.Asn209Thr
ENST00000367196.3:c.521A>C	ENSP00000356164.3:p.Asn174Thr
ENST00000427721.2:c.26A>C	ENSP00000415840.2:p.Asn9Thr
ENST00000433655.5:c.626A>C	ENSP00000404902.1:p.Asn209Thr
ENST00000438213.5:c.581A>C	ENSP00000415036.1:p.Asn194Thr
NM_001909.4:c.626A>C	NP_001900.1:p.Asn209Thr
NM_001909.5:c.626A>C MANE Select	NP_001900.1:p.Asn209Thr