Canonical Allele Identifier: CA1947828420
Community Standard Title: NM_001909.5(CTSD):c.470C= (p.Ser157=)
Gene: CTSD HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001909.5:c.470C= MANE Select NP_001900.1:p.Ser157=
ENST00000236671.7:c.470C= MANE Select ENSP00000236671.2:p.Ser157=
NM_001909.4:c.470C= NP_001900.1:p.Ser157=
ENST00000236671.6:c.470C= ENSP00000236671.2:p.Ser157=
ENST00000367196.3:c.365C= ENSP00000356164.3:p.Ser122=
ENST00000367196.4:c.365C= ENSP00000356164.4:p.Ser122=
ENST00000427721.2:c.-131C= ENSP00000415840.2:n.-131C=
ENST00000429746.2:c.365C= ENSP00000402586.2:p.Ser122=
ENST00000433655.5:c.470C= ENSP00000404902.1:p.Ser157=
ENST00000433655.6:c.470C= ENSP00000404902.1:p.Ser157=
ENST00000438213.5:c.425C= ENSP00000415036.1:p.Ser142=
ENST00000438213.6:c.470C= ENSP00000415036.2:p.Ser157=
ENST00000636397.1:c.470C= ENSP00000489910.1:p.Ser157=
ENST00000636571.1:c.449C= ENSP00000490770.1:p.Ser150=
ENST00000636615.1:c.470C= ENSP00000490014.1:p.Ser157=
ENST00000636843.1:c.464C= ENSP00000490897.1:p.Ser155=
ENST00000637381.2:n.2898C=
ENST00000637387.1:c.470C= ENSP00000490598.1:p.Ser157=
ENST00000637815.2:c.470C= ENSP00000490344.1:p.Ser157=
ENST00000637915.1:c.470C= ENSP00000490471.1:p.Ser157=
ENST00000677300.1:n.865C=
ENST00000678991.1:c.*331C= ENSP00000503019.1:n.*331C=