Canonical Allele Identifier: CA379097166

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1758970G>C , CM000673.2:g.1758970G>C	GRCh38
NC_000011.9:g.1780200G>C , CM000673.1:g.1780200G>C	GRCh37
NC_000011.8:g.1736776G>C	NCBI36
NG_008655.1:g.10023C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.470C>G MANE Select	NP_001900.1:p.Ser157Trp
ENST00000236671.7:c.470C>G MANE Select	ENSP00000236671.2:p.Ser157Trp
NM_001909.4:c.470C>G	NP_001900.1:p.Ser157Trp
ENST00000236671.6:c.470C>G	ENSP00000236671.2:p.Ser157Trp
ENST00000367196.3:c.365C>G	ENSP00000356164.3:p.Ser122Trp
ENST00000367196.4:c.365C>G	ENSP00000356164.4:p.Ser122Trp
ENST00000427721.2:c.-131C>G	ENSP00000415840.2:n.-131C>G
ENST00000429746.2:c.365C>G	ENSP00000402586.2:p.Ser122Trp
ENST00000433655.5:c.470C>G	ENSP00000404902.1:p.Ser157Trp
ENST00000433655.6:c.470C>G	ENSP00000404902.1:p.Ser157Trp
ENST00000438213.5:c.425C>G	ENSP00000415036.1:p.Ser142Trp
ENST00000438213.6:c.470C>G	ENSP00000415036.2:p.Ser157Trp
ENST00000636397.1:c.470C>G	ENSP00000489910.1:p.Ser157Trp
ENST00000636571.1:c.449C>G	ENSP00000490770.1:p.Ser150Trp
ENST00000636615.1:c.470C>G	ENSP00000490014.1:p.Ser157Trp
ENST00000636843.1:c.464C>G	ENSP00000490897.1:p.Ser155Trp
ENST00000637381.2:n.2898C>G
ENST00000637387.1:c.470C>G	ENSP00000490598.1:p.Ser157Trp
ENST00000637815.2:c.470C>G	ENSP00000490344.1:p.Ser157Trp
ENST00000637915.1:c.470C>G	ENSP00000490471.1:p.Ser157Trp
ENST00000677300.1:n.865C>G
ENST00000678991.1:c.*331C>G	ENSP00000503019.1:n.*331C>G