Canonical Allele Identifier: CA2739276108

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2875539
• ClinVar RCV Id: RCV003648678

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753914A>G , CM000673.2:g.1753914A>G	GRCh38
NC_000011.9:g.1775144A>G , CM000673.1:g.1775144A>G	GRCh37
NC_000011.8:g.1731720A>G	NCBI36
NG_008655.1:g.15079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.973-13T>C MANE Select	ENSP00000236671.2:n.973-13T>C
ENST00000367196.4:c.868-13T>C	ENSP00000356164.4:n.868-13T>C
ENST00000427721.3:c.398-13T>C
ENST00000429746.2:c.868-13T>C	ENSP00000402586.2:n.868-13T>C
ENST00000433655.6:c.*139-13T>C	ENSP00000404902.1:n.*139-13T>C
ENST00000438213.6:c.1090-13T>C	ENSP00000415036.2:n.1090-13T>C
ENST00000497544.3:n.668T>C
ENST00000636397.1:c.973-13T>C	ENSP00000489910.1:n.973-13T>C
ENST00000636571.1:c.952-13T>C	ENSP00000490770.1:n.952-13T>C
ENST00000636615.1:c.973-13T>C	ENSP00000490014.1:n.973-13T>C
ENST00000636843.1:c.967-13T>C	ENSP00000490897.1:n.967-13T>C
ENST00000637158.1:n.571-13T>C
ENST00000637381.2:n.3401-13T>C
ENST00000637387.1:c.973-34T>C	ENSP00000490598.1:n.973-34T>C
ENST00000637815.2:c.955-13T>C	ENSP00000490344.1:n.955-13T>C
ENST00000637915.1:c.973-13T>C	ENSP00000490471.1:n.973-13T>C
ENST00000637937.1:n.281-13T>C
ENST00000678991.1:c.*834-13T>C	ENSP00000503019.1:n.*834-13T>C
ENST00000236671.6:c.973-13T>C	ENSP00000236671.2:n.973-13T>C
ENST00000427721.2:c.373-13T>C	ENSP00000415840.2:n.373-13T>C
ENST00000429746.1:c.304-13T>C	ENSP00000402586.1:n.304-13T>C
ENST00000433655.5:c.*139-13T>C	ENSP00000404902.1:n.*139-13T>C
ENST00000497544.1:n.668T>C
NM_001909.4:c.973-13T>C	NP_001900.1:n.973-13T>C
NM_001909.5:c.973-13T>C MANE Select	NP_001900.1:n.973-13T>C