Canonical Allele Identifier: CA471988281
Gene: CTSD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.1780759C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759529C>G , CM000673.2:g.1759529C>G GRCh38
NC_000011.9:g.1780759C>G , CM000673.1:g.1780759C>G GRCh37
NC_000011.8:g.1737335C>G NCBI36
NG_008655.1:g.9464G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.339G>C MANE Select ENSP00000236671.2:p.Leu113=
ENST00000367196.4:c.234G>C ENSP00000356164.4:p.Leu78=
ENST00000429746.2:c.234G>C ENSP00000402586.2:p.Leu78=
ENST00000433655.6:c.339G>C ENSP00000404902.1:p.Leu113=
ENST00000438213.6:c.339G>C ENSP00000415036.2:p.Leu113=
ENST00000636397.1:c.339G>C ENSP00000489910.1:p.Leu113=
ENST00000636571.1:c.318G>C ENSP00000490770.1:p.Leu106=
ENST00000636615.1:c.339G>C ENSP00000490014.1:p.Leu113=
ENST00000636843.1:c.333G>C ENSP00000490897.1:p.Leu111=
ENST00000637381.2:n.2767G>C
ENST00000637387.1:c.339G>C ENSP00000490598.1:p.Leu113=
ENST00000637815.2:c.339G>C ENSP00000490344.1:p.Leu113=
ENST00000637915.1:c.339G>C ENSP00000490471.1:p.Leu113=
ENST00000677300.1:n.734G>C
ENST00000678991.1:c.*200G>C ENSP00000503019.1:n.*200G>C
ENST00000236671.6:c.339G>C ENSP00000236671.2:p.Leu113=
ENST00000367196.3:c.234G>C ENSP00000356164.3:p.Leu78=
ENST00000433655.5:c.339G>C ENSP00000404902.1:p.Leu113=
ENST00000438213.5:c.294G>C ENSP00000415036.1:p.Leu98=
NM_001909.4:c.339G>C NP_001900.1:p.Leu113=
NM_001909.5:c.339G>C MANE Select NP_001900.1:p.Leu113=