Canonical Allele Identifier: CA379095491

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1755015G>A , CM000673.2:g.1755015G>A	GRCh38
NC_000011.9:g.1776245G>A , CM000673.1:g.1776245G>A	GRCh37
NC_000011.8:g.1732821G>A	NCBI36
NG_008655.1:g.13978C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.718C>T MANE Select	NP_001900.1:p.Gln240Ter
ENST00000236671.7:c.718C>T MANE Select	ENSP00000236671.2:p.Gln240Ter
NM_001909.4:c.718C>T	NP_001900.1:p.Gln240Ter
ENST00000236671.6:c.718C>T	ENSP00000236671.2:p.Gln240Ter
ENST00000367196.4:c.613C>T	ENSP00000356164.4:p.Gln205Ter
ENST00000427721.2:c.118C>T	ENSP00000415840.2:p.Gln40Ter
ENST00000427721.3:c.143C>T
ENST00000429746.2:c.613C>T	ENSP00000402586.2:p.Gln205Ter
ENST00000433655.5:c.718C>T	ENSP00000404902.1:p.Gln240Ter
ENST00000433655.6:c.718C>T	ENSP00000404902.1:p.Gln240Ter
ENST00000438213.5:c.673C>T	ENSP00000415036.1:p.Gln225Ter
ENST00000438213.6:c.718C>T	ENSP00000415036.2:p.Gln240Ter
ENST00000497544.1:n.334C>T
ENST00000497544.3:n.334C>T
ENST00000636397.1:c.718C>T	ENSP00000489910.1:p.Gln240Ter
ENST00000636571.1:c.697C>T	ENSP00000490770.1:p.Gln233Ter
ENST00000636615.1:c.718C>T	ENSP00000490014.1:p.Gln240Ter
ENST00000636843.1:c.712C>T	ENSP00000490897.1:p.Gln238Ter
ENST00000637158.1:n.316C>T
ENST00000637381.2:n.3146C>T
ENST00000637387.1:c.718C>T	ENSP00000490598.1:p.Gln240Ter
ENST00000637815.2:c.718C>T	ENSP00000490344.1:p.Gln240Ter
ENST00000637915.1:c.718C>T	ENSP00000490471.1:p.Gln240Ter
ENST00000637937.1:n.26C>T
ENST00000678991.1:c.*579C>T	ENSP00000503019.1:n.*579C>T