Canonical Allele Identifier: CA379093191

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775077C>G (hg19) ; chr11:g.1753847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753847C>G , CM000673.2:g.1753847C>G	GRCh38
NC_000011.9:g.1775077C>G , CM000673.1:g.1775077C>G	GRCh37
NC_000011.8:g.1731653C>G	NCBI36
NG_008655.1:g.15146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1027G>C MANE Select	ENSP00000236671.2:p.Gly343Arg
ENST00000367196.4:c.922G>C	ENSP00000356164.4:p.Gly308Arg
ENST00000427721.3:c.452G>C
ENST00000429746.2:c.922G>C	ENSP00000402586.2:p.Gly308Arg
ENST00000433655.6:c.*193G>C	ENSP00000404902.1:n.*193G>C
ENST00000438213.6:c.1144G>C	ENSP00000415036.2:p.Gly382Arg
ENST00000497544.3:n.735G>C
ENST00000636397.1:c.1027G>C	ENSP00000489910.1:p.Gly343Arg
ENST00000636571.1:c.1006G>C	ENSP00000490770.1:p.Gly336Arg
ENST00000636579.1:c.28G>C	ENSP00000490489.1:p.Gly10Arg
ENST00000636615.1:c.1027G>C	ENSP00000490014.1:p.Gly343Arg
ENST00000636843.1:c.1021G>C	ENSP00000490897.1:p.Gly341Arg
ENST00000637158.1:n.625G>C
ENST00000637381.2:n.3455G>C
ENST00000637387.1:c.1006G>C	ENSP00000490598.1:p.Gly336Arg
ENST00000637815.2:c.1009G>C	ENSP00000490344.1:p.Gly337Arg
ENST00000637915.1:c.1027G>C	ENSP00000490471.1:p.Gly343Arg
ENST00000637937.1:n.335G>C
ENST00000678991.1:c.*888G>C	ENSP00000503019.1:n.*888G>C
ENST00000236671.6:c.1027G>C	ENSP00000236671.2:p.Gly343Arg
ENST00000427721.2:c.427G>C	ENSP00000415840.2:p.Gly143Arg
ENST00000429746.1:c.358G>C	ENSP00000402586.1:p.Gly120Arg
ENST00000433655.5:c.*193G>C	ENSP00000404902.1:n.*193G>C
ENST00000497544.1:n.735G>C
NM_001909.4:c.1027G>C	NP_001900.1:p.Gly343Arg
NM_001909.5:c.1027G>C MANE Select	NP_001900.1:p.Gly343Arg