Canonical Allele Identifier: CA379099850
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v4: 11-1761410-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1761410C>T , CM000673.2:g.1761410C>T GRCh38
NC_000011.9:g.1782640C>T , CM000673.1:g.1782640C>T GRCh37
NC_000011.8:g.1739216C>T NCBI36
NG_008655.1:g.7583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.127G>A MANE Select ENSP00000236671.2:p.Val43Met
ENST00000367196.4:c.22G>A ENSP00000356164.4:p.Val8Met
ENST00000429746.2:c.22G>A ENSP00000402586.2:p.Val8Met
ENST00000433655.6:c.127G>A ENSP00000404902.1:p.Val43Met
ENST00000438213.6:c.127G>A ENSP00000415036.2:p.Val43Met
ENST00000636397.1:c.127G>A ENSP00000489910.1:p.Val43Met
ENST00000636571.1:c.127G>A ENSP00000490770.1:p.Val43Met
ENST00000636615.1:c.127G>A ENSP00000490014.1:p.Val43Met
ENST00000636843.1:c.127G>A ENSP00000490897.1:p.Val43Met
ENST00000637381.2:n.2555G>A
ENST00000637387.1:c.127G>A ENSP00000490598.1:p.Val43Met
ENST00000637815.2:c.127G>A ENSP00000490344.1:p.Val43Met
ENST00000637915.1:c.127G>A ENSP00000490471.1:p.Val43Met
ENST00000678991.1:c.270G>A ENSP00000503019.1:p.Leu90=
ENST00000236671.6:c.127G>A ENSP00000236671.2:p.Val43Met
ENST00000367196.3:c.22G>A ENSP00000356164.3:p.Val8Met
ENST00000433655.5:c.127G>A ENSP00000404902.1:p.Val43Met
ENST00000438213.5:c.82G>A ENSP00000415036.1:p.Val28Met
NM_001909.4:c.127G>A NP_001900.1:p.Val43Met
NM_001909.5:c.127G>A MANE Select NP_001900.1:p.Val43Met