Canonical Allele Identifier: CA379092364

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774765T>A (hg19) ; chr11:g.1753535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753535T>A , CM000673.2:g.1753535T>A	GRCh38
NC_000011.9:g.1774765T>A , CM000673.1:g.1774765T>A	GRCh37
NC_000011.8:g.1731341T>A	NCBI36
NG_008655.1:g.15458A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1207A>T MANE Select	ENSP00000236671.2:p.Arg403Trp
ENST00000367196.4:c.1102A>T	ENSP00000356164.4:p.Arg368Trp
ENST00000427721.3:c.632A>T
ENST00000429746.2:c.1102A>T	ENSP00000402586.2:p.Arg368Trp
ENST00000433655.6:c.*373A>T	ENSP00000404902.1:n.*373A>T
ENST00000438213.6:c.1324A>T	ENSP00000415036.2:p.Arg442Trp
ENST00000636397.1:c.1071+268A>T	ENSP00000489910.1:n.1071+268A>T
ENST00000636571.1:c.1186A>T	ENSP00000490770.1:p.Arg396Trp
ENST00000636579.1:c.72+268A>T	ENSP00000490489.1:n.72+268A>T
ENST00000636615.1:c.1071+268A>T	ENSP00000490014.1:n.1071+268A>T
ENST00000636843.1:c.1201A>T	ENSP00000490897.1:p.Arg401Trp
ENST00000637158.1:n.805A>T
ENST00000637381.2:n.3635A>T
ENST00000637387.1:c.1186A>T	ENSP00000490598.1:p.Arg396Trp
ENST00000637815.2:c.1189A>T	ENSP00000490344.1:p.Arg397Trp
ENST00000637915.1:c.1198A>T	ENSP00000490471.1:p.Arg400Trp
ENST00000637937.1:n.515A>T
ENST00000678991.1:c.*1068A>T	ENSP00000503019.1:n.*1068A>T
ENST00000236671.6:c.1207A>T	ENSP00000236671.2:p.Arg403Trp
ENST00000427721.2:c.471+268A>T	ENSP00000415840.2:n.471+268A>T
ENST00000429746.1:c.538A>T	ENSP00000402586.1:p.Arg180Trp
ENST00000433655.5:c.*373A>T	ENSP00000404902.1:n.*373A>T
NM_001909.4:c.1207A>T	NP_001900.1:p.Arg403Trp
NM_001909.5:c.1207A>T MANE Select	NP_001900.1:p.Arg403Trp