Canonical Allele Identifier: CA1947825319
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs1354741089
gnomAD v4: 11-1753915-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753915C>G , CM000673.2:g.1753915C>G GRCh38
NC_000011.9:g.1775145C>G , CM000673.1:g.1775145C>G GRCh37
NC_000011.8:g.1731721C>G NCBI36
NG_008655.1:g.15078G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.973-14G>C MANE Select ENSP00000236671.2:n.973-14G>C
ENST00000367196.4:c.868-14G>C ENSP00000356164.4:n.868-14G>C
ENST00000427721.3:c.398-14G>C
ENST00000429746.2:c.868-14G>C ENSP00000402586.2:n.868-14G>C
ENST00000433655.6:c.*139-14G>C ENSP00000404902.1:n.*139-14G>C
ENST00000438213.6:c.1090-14G>C ENSP00000415036.2:n.1090-14G>C
ENST00000497544.3:n.667G>C
ENST00000636397.1:c.973-14G>C ENSP00000489910.1:n.973-14G>C
ENST00000636571.1:c.952-14G>C ENSP00000490770.1:n.952-14G>C
ENST00000636615.1:c.973-14G>C ENSP00000490014.1:n.973-14G>C
ENST00000636843.1:c.967-14G>C ENSP00000490897.1:n.967-14G>C
ENST00000637158.1:n.571-14G>C
ENST00000637381.2:n.3401-14G>C
ENST00000637387.1:c.973-35G>C ENSP00000490598.1:n.973-35G>C
ENST00000637815.2:c.955-14G>C ENSP00000490344.1:n.955-14G>C
ENST00000637915.1:c.973-14G>C ENSP00000490471.1:n.973-14G>C
ENST00000637937.1:n.281-14G>C
ENST00000678991.1:c.*834-14G>C ENSP00000503019.1:n.*834-14G>C
ENST00000236671.6:c.973-14G>C ENSP00000236671.2:n.973-14G>C
ENST00000427721.2:c.373-14G>C ENSP00000415840.2:n.373-14G>C
ENST00000429746.1:c.304-14G>C ENSP00000402586.1:n.304-14G>C
ENST00000433655.5:c.*139-14G>C ENSP00000404902.1:n.*139-14G>C
ENST00000497544.1:n.667G>C
NM_001909.4:c.973-14G>C NP_001900.1:n.973-14G>C
NM_001909.5:c.973-14G>C MANE Select NP_001900.1:n.973-14G>C