Canonical Allele Identifier: CA934399431

Gene: CTSD

Linked Data

• dbSNP Id: rs1434732966
• gnomAD v3: 11-1753966-A-G
• gnomAD v4: 11-1753966-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753966A>G , CM000673.2:g.1753966A>G	GRCh38
NC_000011.9:g.1775196A>G , CM000673.1:g.1775196A>G	GRCh37
NC_000011.8:g.1731772A>G	NCBI36
NG_008655.1:g.15027T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+28T>C MANE Select	ENSP00000236671.2:n.972+28T>C
ENST00000367196.4:c.867+28T>C	ENSP00000356164.4:n.867+28T>C
ENST00000427721.3:c.397+28T>C
ENST00000429746.2:c.867+28T>C	ENSP00000402586.2:n.867+28T>C
ENST00000433655.6:c.*138+28T>C	ENSP00000404902.1:n.*138+28T>C
ENST00000438213.6:c.1089+28T>C	ENSP00000415036.2:n.1089+28T>C
ENST00000497544.3:n.616T>C
ENST00000636397.1:c.972+28T>C	ENSP00000489910.1:n.972+28T>C
ENST00000636571.1:c.951+28T>C	ENSP00000490770.1:n.951+28T>C
ENST00000636615.1:c.972+28T>C	ENSP00000490014.1:n.972+28T>C
ENST00000636843.1:c.966+28T>C	ENSP00000490897.1:n.966+28T>C
ENST00000637158.1:n.570+28T>C
ENST00000637381.2:n.3400+28T>C
ENST00000637387.1:c.972+28T>C	ENSP00000490598.1:n.972+28T>C
ENST00000637815.2:c.954+28T>C	ENSP00000490344.1:n.954+28T>C
ENST00000637915.1:c.972+28T>C	ENSP00000490471.1:n.972+28T>C
ENST00000637937.1:n.280+28T>C
ENST00000678991.1:c.*833+28T>C	ENSP00000503019.1:n.*833+28T>C
ENST00000236671.6:c.972+28T>C	ENSP00000236671.2:n.972+28T>C
ENST00000427721.2:c.372+28T>C	ENSP00000415840.2:n.372+28T>C
ENST00000429746.1:c.303+28T>C	ENSP00000402586.1:n.303+28T>C
ENST00000433655.5:c.*138+28T>C	ENSP00000404902.1:n.*138+28T>C
ENST00000497544.1:n.616T>C
NM_001909.4:c.972+28T>C	NP_001900.1:n.972+28T>C
NM_001909.5:c.972+28T>C MANE Select	NP_001900.1:n.972+28T>C