Canonical Allele Identifier: CA379092888

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775056A>G (hg19) ; chr11:g.1753826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753826A>G , CM000673.2:g.1753826A>G	GRCh38
NC_000011.9:g.1775056A>G , CM000673.1:g.1775056A>G	GRCh37
NC_000011.8:g.1731632A>G	NCBI36
NG_008655.1:g.15167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1048T>C MANE Select	ENSP00000236671.2:p.Ser350Pro
ENST00000367196.4:c.943T>C	ENSP00000356164.4:p.Ser315Pro
ENST00000427721.3:c.473T>C
ENST00000429746.2:c.943T>C	ENSP00000402586.2:p.Ser315Pro
ENST00000433655.6:c.*214T>C	ENSP00000404902.1:n.*214T>C
ENST00000438213.6:c.1165T>C	ENSP00000415036.2:p.Ser389Pro
ENST00000497544.3:n.756T>C
ENST00000636397.1:c.1048T>C	ENSP00000489910.1:p.Ser350Pro
ENST00000636571.1:c.1027T>C	ENSP00000490770.1:p.Ser343Pro
ENST00000636579.1:c.49T>C	ENSP00000490489.1:p.Ser17Pro
ENST00000636615.1:c.1048T>C	ENSP00000490014.1:p.Ser350Pro
ENST00000636843.1:c.1042T>C	ENSP00000490897.1:p.Ser348Pro
ENST00000637158.1:n.646T>C
ENST00000637381.2:n.3476T>C
ENST00000637387.1:c.1027T>C	ENSP00000490598.1:p.Ser343Pro
ENST00000637815.2:c.1030T>C	ENSP00000490344.1:p.Ser344Pro
ENST00000637915.1:c.1048T>C	ENSP00000490471.1:p.Ser350Pro
ENST00000637937.1:n.356T>C
ENST00000678991.1:c.*909T>C	ENSP00000503019.1:n.*909T>C
ENST00000236671.6:c.1048T>C	ENSP00000236671.2:p.Ser350Pro
ENST00000427721.2:c.448T>C	ENSP00000415840.2:p.Ser150Pro
ENST00000429746.1:c.379T>C	ENSP00000402586.1:p.Ser127Pro
ENST00000433655.5:c.*214T>C	ENSP00000404902.1:n.*214T>C
ENST00000497544.1:n.756T>C
NM_001909.4:c.1048T>C	NP_001900.1:p.Ser350Pro
NM_001909.5:c.1048T>C MANE Select	NP_001900.1:p.Ser350Pro