Canonical Allele Identifier: CA379095824

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778560A>C (hg19) ; chr11:g.1757330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757330A>C , CM000673.2:g.1757330A>C	GRCh38
NC_000011.9:g.1778560A>C , CM000673.1:g.1778560A>C	GRCh37
NC_000011.8:g.1735136A>C	NCBI36
NG_008655.1:g.11663T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.698T>G MANE Select	ENSP00000236671.2:p.Leu233Arg
ENST00000367196.4:c.593T>G	ENSP00000356164.4:p.Leu198Arg
ENST00000427721.3:c.123T>G
ENST00000429746.2:c.593T>G	ENSP00000402586.2:p.Leu198Arg
ENST00000433655.6:c.698T>G	ENSP00000404902.1:p.Leu233Arg
ENST00000438213.6:c.698T>G	ENSP00000415036.2:p.Leu233Arg
ENST00000636397.1:c.698T>G	ENSP00000489910.1:p.Leu233Arg
ENST00000636571.1:c.677T>G	ENSP00000490770.1:p.Leu226Arg
ENST00000636615.1:c.698T>G	ENSP00000490014.1:p.Leu233Arg
ENST00000636843.1:c.692T>G	ENSP00000490897.1:p.Leu231Arg
ENST00000637158.1:n.296T>G
ENST00000637381.2:n.3126T>G
ENST00000637387.1:c.698T>G	ENSP00000490598.1:p.Leu233Arg
ENST00000637815.2:c.698T>G	ENSP00000490344.1:p.Leu233Arg
ENST00000637915.1:c.698T>G	ENSP00000490471.1:p.Leu233Arg
ENST00000678991.1:c.*559T>G	ENSP00000503019.1:n.*559T>G
ENST00000236671.6:c.698T>G	ENSP00000236671.2:p.Leu233Arg
ENST00000367196.3:c.593T>G	ENSP00000356164.3:p.Leu198Arg
ENST00000427721.2:c.98T>G	ENSP00000415840.2:p.Leu33Arg
ENST00000433655.5:c.698T>G	ENSP00000404902.1:p.Leu233Arg
ENST00000438213.5:c.653T>G	ENSP00000415036.1:p.Leu218Arg
NM_001909.4:c.698T>G	NP_001900.1:p.Leu233Arg
NM_001909.5:c.698T>G MANE Select	NP_001900.1:p.Leu233Arg