Canonical Allele Identifier: CA471988491
Gene: CTSD HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.1780813G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1759583G>C , CM000673.2:g.1759583G>C GRCh38
NC_000011.9:g.1780813G>C , CM000673.1:g.1780813G>C GRCh37
NC_000011.8:g.1737389G>C NCBI36
NG_008655.1:g.9410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.285C>G MANE Select ENSP00000236671.2:p.Val95=
ENST00000367196.4:c.180C>G ENSP00000356164.4:p.Val60=
ENST00000429746.2:c.180C>G ENSP00000402586.2:p.Val60=
ENST00000433655.6:c.285C>G ENSP00000404902.1:p.Val95=
ENST00000438213.6:c.285C>G ENSP00000415036.2:p.Val95=
ENST00000636397.1:c.285C>G ENSP00000489910.1:p.Val95=
ENST00000636571.1:c.264C>G ENSP00000490770.1:p.Val88=
ENST00000636615.1:c.285C>G ENSP00000490014.1:p.Val95=
ENST00000636843.1:c.279C>G ENSP00000490897.1:p.Val93=
ENST00000637381.2:n.2713C>G
ENST00000637387.1:c.285C>G ENSP00000490598.1:p.Val95=
ENST00000637815.2:c.285C>G ENSP00000490344.1:p.Val95=
ENST00000637915.1:c.285C>G ENSP00000490471.1:p.Val95=
ENST00000677300.1:n.680C>G
ENST00000678991.1:c.*146C>G ENSP00000503019.1:n.*146C>G
ENST00000236671.6:c.285C>G ENSP00000236671.2:p.Val95=
ENST00000367196.3:c.180C>G ENSP00000356164.3:p.Val60=
ENST00000433655.5:c.285C>G ENSP00000404902.1:p.Val95=
ENST00000438213.5:c.240C>G ENSP00000415036.1:p.Val80=
NM_001909.4:c.285C>G NP_001900.1:p.Val95=
NM_001909.5:c.285C>G MANE Select NP_001900.1:p.Val95=