Canonical Allele Identifier: CA379093811

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775279T>G (hg19) ; chr11:g.1754049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754049T>G , CM000673.2:g.1754049T>G	GRCh38
NC_000011.9:g.1775279T>G , CM000673.1:g.1775279T>G	GRCh37
NC_000011.8:g.1731855T>G	NCBI36
NG_008655.1:g.14944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.917A>C MANE Select	ENSP00000236671.2:p.Asp306Ala
ENST00000367196.4:c.812A>C	ENSP00000356164.4:p.Asp271Ala
ENST00000427721.3:c.342A>C
ENST00000429746.2:c.812A>C	ENSP00000402586.2:p.Asp271Ala
ENST00000433655.6:c.*83A>C	ENSP00000404902.1:n.*83A>C
ENST00000438213.6:c.1034A>C	ENSP00000415036.2:p.Asp345Ala
ENST00000497544.3:n.533A>C
ENST00000636397.1:c.917A>C	ENSP00000489910.1:p.Asp306Ala
ENST00000636571.1:c.896A>C	ENSP00000490770.1:p.Asp299Ala
ENST00000636615.1:c.917A>C	ENSP00000490014.1:p.Asp306Ala
ENST00000636843.1:c.911A>C	ENSP00000490897.1:p.Asp304Ala
ENST00000637158.1:n.515A>C
ENST00000637381.2:n.3345A>C
ENST00000637387.1:c.917A>C	ENSP00000490598.1:p.Asp306Ala
ENST00000637815.2:c.899A>C	ENSP00000490344.1:p.Asp300Ala
ENST00000637915.1:c.917A>C	ENSP00000490471.1:p.Asp306Ala
ENST00000637937.1:n.225A>C
ENST00000678991.1:c.*778A>C	ENSP00000503019.1:n.*778A>C
ENST00000236671.6:c.917A>C	ENSP00000236671.2:p.Asp306Ala
ENST00000427721.2:c.317A>C	ENSP00000415840.2:p.Asp106Ala
ENST00000429746.1:c.248A>C	ENSP00000402586.1:p.Asp83Ala
ENST00000433655.5:c.*83A>C	ENSP00000404902.1:n.*83A>C
ENST00000438213.5:c.872A>C	ENSP00000415036.1:p.Asp291Ala
ENST00000497544.1:n.533A>C
NM_001909.4:c.917A>C	NP_001900.1:p.Asp306Ala
NM_001909.5:c.917A>C MANE Select	NP_001900.1:p.Asp306Ala