Canonical Allele Identifier: CA379093481

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775224C>G (hg19) ; chr11:g.1753994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753994C>G , CM000673.2:g.1753994C>G	GRCh38
NC_000011.9:g.1775224C>G , CM000673.1:g.1775224C>G	GRCh37
NC_000011.8:g.1731800C>G	NCBI36
NG_008655.1:g.14999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972G>C MANE Select	ENSP00000236671.2:p.Glu324Asp
ENST00000367196.4:c.867G>C	ENSP00000356164.4:p.Glu289Asp
ENST00000427721.3:c.397G>C
ENST00000429746.2:c.867G>C	ENSP00000402586.2:p.Glu289Asp
ENST00000433655.6:c.*138G>C	ENSP00000404902.1:n.*138G>C
ENST00000438213.6:c.1089G>C	ENSP00000415036.2:p.Glu363Asp
ENST00000497544.3:n.588G>C
ENST00000636397.1:c.972G>C	ENSP00000489910.1:p.Glu324Asp
ENST00000636571.1:c.951G>C	ENSP00000490770.1:p.Glu317Asp
ENST00000636615.1:c.972G>C	ENSP00000490014.1:p.Glu324Asp
ENST00000636843.1:c.966G>C	ENSP00000490897.1:p.Glu322Asp
ENST00000637158.1:n.570G>C
ENST00000637381.2:n.3400G>C
ENST00000637387.1:c.972G>C	ENSP00000490598.1:p.Glu324Asp
ENST00000637815.2:c.954G>C	ENSP00000490344.1:p.Glu318Asp
ENST00000637915.1:c.972G>C	ENSP00000490471.1:p.Glu324Asp
ENST00000637937.1:n.280G>C
ENST00000678991.1:c.*833G>C	ENSP00000503019.1:n.*833G>C
ENST00000236671.6:c.972G>C	ENSP00000236671.2:p.Glu324Asp
ENST00000427721.2:c.372G>C	ENSP00000415840.2:p.Glu124Asp
ENST00000429746.1:c.303G>C	ENSP00000402586.1:p.Glu101Asp
ENST00000433655.5:c.*138G>C	ENSP00000404902.1:n.*138G>C
ENST00000497544.1:n.588G>C
NM_001909.4:c.972G>C	NP_001900.1:p.Glu324Asp
NM_001909.5:c.972G>C MANE Select	NP_001900.1:p.Glu324Asp