Canonical Allele Identifier: CA379095814

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778555T>A (hg19) ; chr11:g.1757325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757325T>A , CM000673.2:g.1757325T>A	GRCh38
NC_000011.9:g.1778555T>A , CM000673.1:g.1778555T>A	GRCh37
NC_000011.8:g.1735131T>A	NCBI36
NG_008655.1:g.11668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.703A>T MANE Select	ENSP00000236671.2:p.Arg235Trp
ENST00000367196.4:c.598A>T	ENSP00000356164.4:p.Arg200Trp
ENST00000427721.3:c.128A>T
ENST00000429746.2:c.598A>T	ENSP00000402586.2:p.Arg200Trp
ENST00000433655.6:c.703A>T	ENSP00000404902.1:p.Arg235Trp
ENST00000438213.6:c.703A>T	ENSP00000415036.2:p.Arg235Trp
ENST00000636397.1:c.703A>T	ENSP00000489910.1:p.Arg235Trp
ENST00000636571.1:c.682A>T	ENSP00000490770.1:p.Arg228Trp
ENST00000636615.1:c.703A>T	ENSP00000490014.1:p.Arg235Trp
ENST00000636843.1:c.697A>T	ENSP00000490897.1:p.Arg233Trp
ENST00000637158.1:n.301A>T
ENST00000637381.2:n.3131A>T
ENST00000637387.1:c.703A>T	ENSP00000490598.1:p.Arg235Trp
ENST00000637815.2:c.703A>T	ENSP00000490344.1:p.Arg235Trp
ENST00000637915.1:c.703A>T	ENSP00000490471.1:p.Arg235Trp
ENST00000678991.1:c.*564A>T	ENSP00000503019.1:n.*564A>T
ENST00000236671.6:c.703A>T	ENSP00000236671.2:p.Arg235Trp
ENST00000367196.3:c.598A>T
ENST00000427721.2:c.103A>T	ENSP00000415840.2:p.Arg35Trp
ENST00000433655.5:c.703A>T	ENSP00000404902.1:p.Arg235Trp
ENST00000438213.5:c.658A>T	ENSP00000415036.1:p.Arg220Trp
NM_001909.4:c.703A>T	NP_001900.1:p.Arg235Trp
NM_001909.5:c.703A>T MANE Select	NP_001900.1:p.Arg235Trp