Canonical Allele Identifier: CA379092604

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774843G>C (hg19) ; chr11:g.1753613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753613G>C , CM000673.2:g.1753613G>C	GRCh38
NC_000011.9:g.1774843G>C , CM000673.1:g.1774843G>C	GRCh37
NC_000011.8:g.1731419G>C	NCBI36
NG_008655.1:g.15380C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1129C>G MANE Select	ENSP00000236671.2:p.Pro377Ala
ENST00000367196.4:c.1024C>G	ENSP00000356164.4:p.Pro342Ala
ENST00000427721.3:c.554C>G
ENST00000429746.2:c.1024C>G	ENSP00000402586.2:p.Pro342Ala
ENST00000433655.6:c.*295C>G	ENSP00000404902.1:n.*295C>G
ENST00000438213.6:c.1246C>G	ENSP00000415036.2:p.Pro416Ala
ENST00000636397.1:c.1071+190C>G	ENSP00000489910.1:n.1071+190C>G
ENST00000636571.1:c.1108C>G	ENSP00000490770.1:p.Pro370Ala
ENST00000636579.1:c.72+190C>G	ENSP00000490489.1:n.72+190C>G
ENST00000636615.1:c.1071+190C>G	ENSP00000490014.1:n.1071+190C>G
ENST00000636843.1:c.1123C>G	ENSP00000490897.1:p.Pro375Ala
ENST00000637158.1:n.727C>G
ENST00000637381.2:n.3557C>G
ENST00000637387.1:c.1108C>G	ENSP00000490598.1:p.Pro370Ala
ENST00000637815.2:c.1111C>G	ENSP00000490344.1:p.Pro371Ala
ENST00000637915.1:c.1120C>G	ENSP00000490471.1:p.Pro374Ala
ENST00000637937.1:n.437C>G
ENST00000678991.1:c.*990C>G	ENSP00000503019.1:n.*990C>G
ENST00000236671.6:c.1129C>G	ENSP00000236671.2:p.Pro377Ala
ENST00000427721.2:c.471+190C>G	ENSP00000415840.2:n.471+190C>G
ENST00000429746.1:c.460C>G	ENSP00000402586.1:p.Pro154Ala
ENST00000433655.5:c.*295C>G	ENSP00000404902.1:n.*295C>G
NM_001909.4:c.1129C>G	NP_001900.1:p.Pro377Ala
NM_001909.5:c.1129C>G MANE Select	NP_001900.1:p.Pro377Ala