Canonical Allele Identifier: CA472140485

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774829T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753599T>G , CM000673.2:g.1753599T>G	GRCh38
NC_000011.9:g.1774829T>G , CM000673.1:g.1774829T>G	GRCh37
NC_000011.8:g.1731405T>G	NCBI36
NG_008655.1:g.15394A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1143A>C MANE Select	ENSP00000236671.2:p.Pro381=
ENST00000367196.4:c.1038A>C	ENSP00000356164.4:p.Pro346=
ENST00000427721.3:c.568A>C
ENST00000429746.2:c.1038A>C	ENSP00000402586.2:p.Pro346=
ENST00000433655.6:c.*309A>C	ENSP00000404902.1:n.*309A>C
ENST00000438213.6:c.1260A>C	ENSP00000415036.2:p.Pro420=
ENST00000636397.1:c.1071+204A>C	ENSP00000489910.1:n.1071+204A>C
ENST00000636571.1:c.1122A>C	ENSP00000490770.1:p.Pro374=
ENST00000636579.1:c.72+204A>C	ENSP00000490489.1:n.72+204A>C
ENST00000636615.1:c.1071+204A>C	ENSP00000490014.1:n.1071+204A>C
ENST00000636843.1:c.1137A>C	ENSP00000490897.1:p.Pro379=
ENST00000637158.1:n.741A>C
ENST00000637381.2:n.3571A>C
ENST00000637387.1:c.1122A>C	ENSP00000490598.1:p.Pro374=
ENST00000637815.2:c.1125A>C	ENSP00000490344.1:p.Pro375=
ENST00000637915.1:c.1134A>C	ENSP00000490471.1:p.Pro378=
ENST00000637937.1:n.451A>C
ENST00000678991.1:c.*1004A>C	ENSP00000503019.1:n.*1004A>C
ENST00000236671.6:c.1143A>C	ENSP00000236671.2:p.Pro381=
ENST00000427721.2:c.471+204A>C	ENSP00000415840.2:n.471+204A>C
ENST00000429746.1:c.474A>C	ENSP00000402586.1:p.Pro158=
ENST00000433655.5:c.*309A>C	ENSP00000404902.1:n.*309A>C
NM_001909.4:c.1143A>C	NP_001900.1:p.Pro381=
NM_001909.5:c.1143A>C MANE Select	NP_001900.1:p.Pro381=