Canonical Allele Identifier: CA2611922144

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2833207
• ClinVar RCV Id: RCV003648369
• gnomAD v4: 11-1757307-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757307G>A , CM000673.2:g.1757307G>A	GRCh38
NC_000011.9:g.1778537G>A , CM000673.1:g.1778537G>A	GRCh37
NC_000011.8:g.1735113G>A	NCBI36
NG_008655.1:g.11686C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.704+17C>T MANE Select	ENSP00000236671.2:n.704+17C>T
ENST00000367196.4:c.599+17C>T	ENSP00000356164.4:n.599+17C>T
ENST00000427721.3:c.129+17C>T
ENST00000429746.2:c.599+17C>T	ENSP00000402586.2:n.599+17C>T
ENST00000433655.6:c.704+17C>T	ENSP00000404902.1:n.704+17C>T
ENST00000438213.6:c.704+17C>T	ENSP00000415036.2:n.704+17C>T
ENST00000636397.1:c.704+17C>T	ENSP00000489910.1:n.704+17C>T
ENST00000636571.1:c.683+17C>T	ENSP00000490770.1:n.683+17C>T
ENST00000636615.1:c.704+17C>T	ENSP00000490014.1:n.704+17C>T
ENST00000636843.1:c.698+17C>T	ENSP00000490897.1:n.698+17C>T
ENST00000637158.1:n.302+17C>T
ENST00000637381.2:n.3132+17C>T
ENST00000637387.1:c.704+17C>T	ENSP00000490598.1:n.704+17C>T
ENST00000637815.2:c.704+17C>T	ENSP00000490344.1:n.704+17C>T
ENST00000637915.1:c.704+17C>T	ENSP00000490471.1:n.704+17C>T
ENST00000678991.1:c.*565+17C>T	ENSP00000503019.1:n.*565+17C>T
ENST00000236671.6:c.704+17C>T	ENSP00000236671.2:n.704+17C>T
ENST00000427721.2:c.104+17C>T	ENSP00000415840.2:n.104+17C>T
ENST00000433655.5:c.704+17C>T	ENSP00000404902.1:n.704+17C>T
ENST00000438213.5:c.659+17C>T	ENSP00000415036.1:n.659+17C>T
NM_001909.4:c.704+17C>T	NP_001900.1:n.704+17C>T
NM_001909.5:c.704+17C>T MANE Select	NP_001900.1:n.704+17C>T