Canonical Allele Identifier: CA472140510

Gene: CTSD

Linked Data

• dbSNP Id: rs753414433
• gnomAD v3: 11-1753890-G-C
• gnomAD v4: 11-1753890-G-C
• MyVariant Identifiers: chr11:g.1775120G>C (hg19) ; chr11:g.1753890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753890G>C , CM000673.2:g.1753890G>C	GRCh38
NC_000011.9:g.1775120G>C , CM000673.1:g.1775120G>C	GRCh37
NC_000011.8:g.1731696G>C	NCBI36
NG_008655.1:g.15103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.984C>G MANE Select	ENSP00000236671.2:p.Pro328=
ENST00000367196.4:c.879C>G	ENSP00000356164.4:p.Pro293=
ENST00000427721.3:c.409C>G
ENST00000429746.2:c.879C>G	ENSP00000402586.2:p.Pro293=
ENST00000433655.6:c.*150C>G	ENSP00000404902.1:n.*150C>G
ENST00000438213.6:c.1101C>G	ENSP00000415036.2:p.Pro367=
ENST00000497544.3:n.692C>G
ENST00000636397.1:c.984C>G	ENSP00000489910.1:p.Pro328=
ENST00000636571.1:c.963C>G	ENSP00000490770.1:p.Pro321=
ENST00000636615.1:c.984C>G	ENSP00000490014.1:p.Pro328=
ENST00000636843.1:c.978C>G	ENSP00000490897.1:p.Pro326=
ENST00000637158.1:n.582C>G
ENST00000637381.2:n.3412C>G
ENST00000637387.1:c.973-10C>G	ENSP00000490598.1:n.973-10C>G
ENST00000637815.2:c.966C>G	ENSP00000490344.1:p.Pro322=
ENST00000637915.1:c.984C>G	ENSP00000490471.1:p.Pro328=
ENST00000637937.1:n.292C>G
ENST00000678991.1:c.*845C>G	ENSP00000503019.1:n.*845C>G
ENST00000236671.6:c.984C>G	ENSP00000236671.2:p.Pro328=
ENST00000427721.2:c.384C>G	ENSP00000415840.2:p.Pro128=
ENST00000429746.1:c.315C>G	ENSP00000402586.1:p.Pro105=
ENST00000433655.5:c.*150C>G	ENSP00000404902.1:n.*150C>G
ENST00000497544.1:n.692C>G
NM_001909.4:c.984C>G	NP_001900.1:p.Pro328=
NM_001909.5:c.984C>G MANE Select	NP_001900.1:p.Pro328=