Canonical Allele Identifier: CA379093242

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775089T>G (hg19) ; chr11:g.1753859T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753859T>G , CM000673.2:g.1753859T>G	GRCh38
NC_000011.9:g.1775089T>G , CM000673.1:g.1775089T>G	GRCh37
NC_000011.8:g.1731665T>G	NCBI36
NG_008655.1:g.15134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1015A>C MANE Select	ENSP00000236671.2:p.Thr339Pro
ENST00000367196.4:c.910A>C	ENSP00000356164.4:p.Thr304Pro
ENST00000427721.3:c.440A>C
ENST00000429746.2:c.910A>C	ENSP00000402586.2:p.Thr304Pro
ENST00000433655.6:c.*181A>C	ENSP00000404902.1:n.*181A>C
ENST00000438213.6:c.1132A>C	ENSP00000415036.2:p.Thr378Pro
ENST00000497544.3:n.723A>C
ENST00000636397.1:c.1015A>C	ENSP00000489910.1:p.Thr339Pro
ENST00000636571.1:c.994A>C	ENSP00000490770.1:p.Thr332Pro
ENST00000636579.1:c.16A>C	ENSP00000490489.1:p.Thr6Pro
ENST00000636615.1:c.1015A>C	ENSP00000490014.1:p.Thr339Pro
ENST00000636843.1:c.1009A>C	ENSP00000490897.1:p.Thr337Pro
ENST00000637158.1:n.613A>C
ENST00000637381.2:n.3443A>C
ENST00000637387.1:c.994A>C	ENSP00000490598.1:p.Thr332Pro
ENST00000637815.2:c.997A>C	ENSP00000490344.1:p.Thr333Pro
ENST00000637915.1:c.1015A>C	ENSP00000490471.1:p.Thr339Pro
ENST00000637937.1:n.323A>C
ENST00000678991.1:c.*876A>C	ENSP00000503019.1:n.*876A>C
ENST00000236671.6:c.1015A>C	ENSP00000236671.2:p.Thr339Pro
ENST00000427721.2:c.415A>C	ENSP00000415840.2:p.Thr139Pro
ENST00000429746.1:c.346A>C	ENSP00000402586.1:p.Thr116Pro
ENST00000433655.5:c.*181A>C	ENSP00000404902.1:n.*181A>C
ENST00000497544.1:n.723A>C
NM_001909.4:c.1015A>C	NP_001900.1:p.Thr339Pro
NM_001909.5:c.1015A>C MANE Select	NP_001900.1:p.Thr339Pro