Canonical Allele Identifier: CA379093151

Gene: CTSD

Linked Data

• ClinVar Variation Id: 588143
• ClinVar RCV Id: RCV002316063
• dbSNP Id: rs1565018716
• MyVariant Identifiers: chr11:g.1775068C>G (hg19) ; chr11:g.1753838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753838C>G , CM000673.2:g.1753838C>G	GRCh38
NC_000011.9:g.1775068C>G , CM000673.1:g.1775068C>G	GRCh37
NC_000011.8:g.1731644C>G	NCBI36
NG_008655.1:g.15155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1036G>C MANE Select	ENSP00000236671.2:p.Gly346Arg
ENST00000367196.4:c.931G>C	ENSP00000356164.4:p.Gly311Arg
ENST00000427721.3:c.461G>C
ENST00000429746.2:c.931G>C	ENSP00000402586.2:p.Gly311Arg
ENST00000433655.6:c.*202G>C	ENSP00000404902.1:n.*202G>C
ENST00000438213.6:c.1153G>C	ENSP00000415036.2:p.Gly385Arg
ENST00000497544.3:n.744G>C
ENST00000636397.1:c.1036G>C	ENSP00000489910.1:p.Gly346Arg
ENST00000636571.1:c.1015G>C	ENSP00000490770.1:p.Gly339Arg
ENST00000636579.1:c.37G>C	ENSP00000490489.1:p.Gly13Arg
ENST00000636615.1:c.1036G>C	ENSP00000490014.1:p.Gly346Arg
ENST00000636843.1:c.1030G>C	ENSP00000490897.1:p.Gly344Arg
ENST00000637158.1:n.634G>C
ENST00000637381.2:n.3464G>C
ENST00000637387.1:c.1015G>C	ENSP00000490598.1:p.Gly339Arg
ENST00000637815.2:c.1018G>C	ENSP00000490344.1:p.Gly340Arg
ENST00000637915.1:c.1036G>C	ENSP00000490471.1:p.Gly346Arg
ENST00000637937.1:n.344G>C
ENST00000678991.1:c.*897G>C	ENSP00000503019.1:n.*897G>C
ENST00000236671.6:c.1036G>C	ENSP00000236671.2:p.Gly346Arg
ENST00000427721.2:c.436G>C	ENSP00000415840.2:p.Gly146Arg
ENST00000429746.1:c.367G>C	ENSP00000402586.1:p.Gly123Arg
ENST00000433655.5:c.*202G>C	ENSP00000404902.1:n.*202G>C
ENST00000497544.1:n.744G>C
NM_001909.4:c.1036G>C	NP_001900.1:p.Gly346Arg
NM_001909.5:c.1036G>C MANE Select	NP_001900.1:p.Gly346Arg