Canonical Allele Identifier: CA472140821

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775257C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754027C>T , CM000673.2:g.1754027C>T	GRCh38
NC_000011.9:g.1775257C>T , CM000673.1:g.1775257C>T	GRCh37
NC_000011.8:g.1731833C>T	NCBI36
NG_008655.1:g.14966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.939G>A MANE Select	ENSP00000236671.2:p.Lys313=
ENST00000367196.4:c.834G>A	ENSP00000356164.4:p.Lys278=
ENST00000427721.3:c.364G>A
ENST00000429746.2:c.834G>A	ENSP00000402586.2:p.Lys278=
ENST00000433655.6:c.*105G>A	ENSP00000404902.1:n.*105G>A
ENST00000438213.6:c.1056G>A	ENSP00000415036.2:p.Lys352=
ENST00000497544.3:n.555G>A
ENST00000636397.1:c.939G>A	ENSP00000489910.1:p.Lys313=
ENST00000636571.1:c.918G>A	ENSP00000490770.1:p.Lys306=
ENST00000636615.1:c.939G>A	ENSP00000490014.1:p.Lys313=
ENST00000636843.1:c.933G>A	ENSP00000490897.1:p.Lys311=
ENST00000637158.1:n.537G>A
ENST00000637381.2:n.3367G>A
ENST00000637387.1:c.939G>A	ENSP00000490598.1:p.Lys313=
ENST00000637815.2:c.921G>A	ENSP00000490344.1:p.Lys307=
ENST00000637915.1:c.939G>A	ENSP00000490471.1:p.Lys313=
ENST00000637937.1:n.247G>A
ENST00000678991.1:c.*800G>A	ENSP00000503019.1:n.*800G>A
ENST00000236671.6:c.939G>A	ENSP00000236671.2:p.Lys313=
ENST00000427721.2:c.339G>A	ENSP00000415840.2:p.Lys113=
ENST00000429746.1:c.270G>A	ENSP00000402586.1:p.Lys90=
ENST00000433655.5:c.*105G>A	ENSP00000404902.1:n.*105G>A
ENST00000438213.5:c.894G>A	ENSP00000415036.1:p.Lys298=
ENST00000497544.1:n.555G>A
NM_001909.4:c.939G>A	NP_001900.1:p.Lys313=
NM_001909.5:c.939G>A MANE Select	NP_001900.1:p.Lys313=