Canonical Allele Identifier: CA379092427

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774792A>G (hg19) ; chr11:g.1753562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753562A>G , CM000673.2:g.1753562A>G	GRCh38
NC_000011.9:g.1774792A>G , CM000673.1:g.1774792A>G	GRCh37
NC_000011.8:g.1731368A>G	NCBI36
NG_008655.1:g.15431T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1180T>C MANE Select	ENSP00000236671.2:p.Tyr394His
ENST00000367196.4:c.1075T>C	ENSP00000356164.4:p.Tyr359His
ENST00000427721.3:c.605T>C
ENST00000429746.2:c.1075T>C	ENSP00000402586.2:p.Tyr359His
ENST00000433655.6:c.*346T>C	ENSP00000404902.1:n.*346T>C
ENST00000438213.6:c.1297T>C	ENSP00000415036.2:p.Tyr433His
ENST00000636397.1:c.1071+241T>C	ENSP00000489910.1:n.1071+241T>C
ENST00000636571.1:c.1159T>C	ENSP00000490770.1:p.Tyr387His
ENST00000636579.1:c.72+241T>C	ENSP00000490489.1:n.72+241T>C
ENST00000636615.1:c.1071+241T>C	ENSP00000490014.1:n.1071+241T>C
ENST00000636843.1:c.1174T>C	ENSP00000490897.1:p.Tyr392His
ENST00000637158.1:n.778T>C
ENST00000637381.2:n.3608T>C
ENST00000637387.1:c.1159T>C	ENSP00000490598.1:p.Tyr387His
ENST00000637815.2:c.1162T>C	ENSP00000490344.1:p.Tyr388His
ENST00000637915.1:c.1171T>C	ENSP00000490471.1:p.Tyr391His
ENST00000637937.1:n.488T>C
ENST00000678991.1:c.*1041T>C	ENSP00000503019.1:n.*1041T>C
ENST00000236671.6:c.1180T>C	ENSP00000236671.2:p.Tyr394His
ENST00000427721.2:c.471+241T>C	ENSP00000415840.2:n.471+241T>C
ENST00000429746.1:c.511T>C	ENSP00000402586.1:p.Tyr171His
ENST00000433655.5:c.*346T>C	ENSP00000404902.1:n.*346T>C
NM_001909.4:c.1180T>C	NP_001900.1:p.Tyr394His
NM_001909.5:c.1180T>C MANE Select	NP_001900.1:p.Tyr394His