Canonical Allele Identifier: CA471983312

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754953G>A , CM000673.2:g.1754953G>A	GRCh38
NC_000011.9:g.1776183G>A , CM000673.1:g.1776183G>A	GRCh37
NC_000011.8:g.1732759G>A	NCBI36
NG_008655.1:g.14040C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.780C>T MANE Select	NP_001900.1:p.Ser260=
ENST00000236671.7:c.780C>T MANE Select	ENSP00000236671.2:p.Ser260=
NM_001909.4:c.780C>T	NP_001900.1:p.Ser260=
ENST00000236671.6:c.780C>T	ENSP00000236671.2:p.Ser260=
ENST00000367196.4:c.675C>T	ENSP00000356164.4:p.Ser225=
ENST00000427721.2:c.180C>T	ENSP00000415840.2:p.Ser60=
ENST00000427721.3:c.205C>T
ENST00000429746.2:c.675C>T	ENSP00000402586.2:p.Ser225=
ENST00000433655.5:c.780C>T	ENSP00000404902.1:p.Ser260=
ENST00000433655.6:c.780C>T	ENSP00000404902.1:p.Ser260=
ENST00000438213.5:c.735C>T	ENSP00000415036.1:p.Ser245=
ENST00000438213.6:c.780C>T	ENSP00000415036.2:p.Ser260=
ENST00000497544.1:n.396C>T
ENST00000497544.3:n.396C>T
ENST00000636397.1:c.780C>T	ENSP00000489910.1:p.Ser260=
ENST00000636571.1:c.759C>T	ENSP00000490770.1:p.Ser253=
ENST00000636615.1:c.780C>T	ENSP00000490014.1:p.Ser260=
ENST00000636843.1:c.774C>T	ENSP00000490897.1:p.Ser258=
ENST00000637158.1:n.378C>T
ENST00000637381.2:n.3208C>T
ENST00000637387.1:c.780C>T	ENSP00000490598.1:p.Ser260=
ENST00000637815.2:c.780C>T	ENSP00000490344.1:p.Ser260=
ENST00000637915.1:c.780C>T	ENSP00000490471.1:p.Ser260=
ENST00000637937.1:n.88C>T
ENST00000678991.1:c.*641C>T	ENSP00000503019.1:n.*641C>T