Canonical Allele Identifier: CA379093825

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775280C>G (hg19) ; chr11:g.1754050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754050C>G , CM000673.2:g.1754050C>G	GRCh38
NC_000011.9:g.1775280C>G , CM000673.1:g.1775280C>G	GRCh37
NC_000011.8:g.1731856C>G	NCBI36
NG_008655.1:g.14943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.916G>C MANE Select	ENSP00000236671.2:p.Asp306His
ENST00000367196.4:c.811G>C	ENSP00000356164.4:p.Asp271His
ENST00000427721.3:c.341G>C
ENST00000429746.2:c.811G>C	ENSP00000402586.2:p.Asp271His
ENST00000433655.6:c.*82G>C	ENSP00000404902.1:n.*82G>C
ENST00000438213.6:c.1033G>C	ENSP00000415036.2:p.Asp345His
ENST00000497544.3:n.532G>C
ENST00000636397.1:c.916G>C	ENSP00000489910.1:p.Asp306His
ENST00000636571.1:c.895G>C	ENSP00000490770.1:p.Asp299His
ENST00000636615.1:c.916G>C	ENSP00000490014.1:p.Asp306His
ENST00000636843.1:c.910G>C	ENSP00000490897.1:p.Asp304His
ENST00000637158.1:n.514G>C
ENST00000637381.2:n.3344G>C
ENST00000637387.1:c.916G>C	ENSP00000490598.1:p.Asp306His
ENST00000637815.2:c.898G>C	ENSP00000490344.1:p.Asp300His
ENST00000637915.1:c.916G>C	ENSP00000490471.1:p.Asp306His
ENST00000637937.1:n.224G>C
ENST00000678991.1:c.*777G>C	ENSP00000503019.1:n.*777G>C
ENST00000236671.6:c.916G>C	ENSP00000236671.2:p.Asp306His
ENST00000427721.2:c.316G>C	ENSP00000415840.2:p.Asp106His
ENST00000429746.1:c.247G>C	ENSP00000402586.1:p.Asp83His
ENST00000433655.5:c.*82G>C	ENSP00000404902.1:n.*82G>C
ENST00000438213.5:c.871G>C	ENSP00000415036.1:p.Asp291His
ENST00000497544.1:n.532G>C
NM_001909.4:c.916G>C	NP_001900.1:p.Asp306His
NM_001909.5:c.916G>C MANE Select	NP_001900.1:p.Asp306His