Canonical Allele Identifier: CA472140796

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774877G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753647G>A , CM000673.2:g.1753647G>A	GRCh38
NC_000011.9:g.1774877G>A , CM000673.1:g.1774877G>A	GRCh37
NC_000011.8:g.1731453G>A	NCBI36
NG_008655.1:g.15346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1095C>T MANE Select	ENSP00000236671.2:p.Leu365=
ENST00000367196.4:c.990C>T	ENSP00000356164.4:p.Leu330=
ENST00000427721.3:c.520C>T
ENST00000429746.2:c.990C>T	ENSP00000402586.2:p.Leu330=
ENST00000433655.6:c.*261C>T	ENSP00000404902.1:n.*261C>T
ENST00000438213.6:c.1212C>T	ENSP00000415036.2:p.Leu404=
ENST00000636397.1:c.1071+156C>T	ENSP00000489910.1:n.1071+156C>T
ENST00000636571.1:c.1074C>T	ENSP00000490770.1:p.Leu358=
ENST00000636579.1:c.72+156C>T	ENSP00000490489.1:n.72+156C>T
ENST00000636615.1:c.1071+156C>T	ENSP00000490014.1:n.1071+156C>T
ENST00000636843.1:c.1089C>T	ENSP00000490897.1:p.Leu363=
ENST00000637158.1:n.693C>T
ENST00000637381.2:n.3523C>T
ENST00000637387.1:c.1074C>T	ENSP00000490598.1:p.Leu358=
ENST00000637815.2:c.1077C>T	ENSP00000490344.1:p.Leu359=
ENST00000637915.1:c.1086C>T	ENSP00000490471.1:p.Leu362=
ENST00000637937.1:n.403C>T
ENST00000678991.1:c.*956C>T	ENSP00000503019.1:n.*956C>T
ENST00000236671.6:c.1095C>T	ENSP00000236671.2:p.Leu365=
ENST00000427721.2:c.471+156C>T	ENSP00000415840.2:n.471+156C>T
ENST00000429746.1:c.426C>T	ENSP00000402586.1:p.Leu142=
ENST00000433655.5:c.*261C>T	ENSP00000404902.1:n.*261C>T
NM_001909.4:c.1095C>T	NP_001900.1:p.Leu365=
NM_001909.5:c.1095C>T MANE Select	NP_001900.1:p.Leu365=