Canonical Allele Identifier: CA2739276109

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2839283
• ClinVar RCV Id: RCV003648412

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753916A>G , CM000673.2:g.1753916A>G	GRCh38
NC_000011.9:g.1775146A>G , CM000673.1:g.1775146A>G	GRCh37
NC_000011.8:g.1731722A>G	NCBI36
NG_008655.1:g.15077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-15T>C MANE Select	ENSP00000236671.2:n.973-15T>C
ENST00000367196.4:c.868-15T>C	ENSP00000356164.4:n.868-15T>C
ENST00000427721.3:c.398-15T>C
ENST00000429746.2:c.868-15T>C	ENSP00000402586.2:n.868-15T>C
ENST00000433655.6:c.*139-15T>C	ENSP00000404902.1:n.*139-15T>C
ENST00000438213.6:c.1090-15T>C	ENSP00000415036.2:n.1090-15T>C
ENST00000497544.3:n.666T>C
ENST00000636397.1:c.973-15T>C	ENSP00000489910.1:n.973-15T>C
ENST00000636571.1:c.952-15T>C	ENSP00000490770.1:n.952-15T>C
ENST00000636615.1:c.973-15T>C	ENSP00000490014.1:n.973-15T>C
ENST00000636843.1:c.967-15T>C	ENSP00000490897.1:n.967-15T>C
ENST00000637158.1:n.571-15T>C
ENST00000637381.2:n.3401-15T>C
ENST00000637387.1:c.973-36T>C	ENSP00000490598.1:n.973-36T>C
ENST00000637815.2:c.955-15T>C	ENSP00000490344.1:n.955-15T>C
ENST00000637915.1:c.973-15T>C	ENSP00000490471.1:n.973-15T>C
ENST00000637937.1:n.281-15T>C
ENST00000678991.1:c.*834-15T>C	ENSP00000503019.1:n.*834-15T>C
ENST00000236671.6:c.973-15T>C	ENSP00000236671.2:n.973-15T>C
ENST00000427721.2:c.373-15T>C	ENSP00000415840.2:n.373-15T>C
ENST00000429746.1:c.304-15T>C	ENSP00000402586.1:n.304-15T>C
ENST00000433655.5:c.*139-15T>C	ENSP00000404902.1:n.*139-15T>C
ENST00000497544.1:n.666T>C
NM_001909.4:c.973-15T>C	NP_001900.1:n.973-15T>C
NM_001909.5:c.973-15T>C MANE Select	NP_001900.1:n.973-15T>C