Canonical Allele Identifier: CA379095003

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754904A>G , CM000673.2:g.1754904A>G	GRCh38
NC_000011.9:g.1776134A>G , CM000673.1:g.1776134A>G	GRCh37
NC_000011.8:g.1732710A>G	NCBI36
NG_008655.1:g.14089T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001909.5:c.827+2T>C MANE Select	NP_001900.1:n.827+2T>C
ENST00000236671.7:c.827+2T>C MANE Select	ENSP00000236671.2:n.827+2T>C
NM_001909.4:c.827+2T>C	NP_001900.1:n.827+2T>C
ENST00000236671.6:c.827+2T>C	ENSP00000236671.2:n.827+2T>C
ENST00000367196.4:c.722+2T>C	ENSP00000356164.4:n.722+2T>C
ENST00000427721.2:c.227+2T>C	ENSP00000415840.2:n.227+2T>C
ENST00000427721.3:c.252+2T>C
ENST00000429746.1:c.41+2T>C	ENSP00000402586.1:n.41+2T>C
ENST00000429746.2:c.722+2T>C	ENSP00000402586.2:n.722+2T>C
ENST00000433655.5:c.829T>C	ENSP00000404902.1:p.Ter277Arg
ENST00000433655.6:c.829T>C	ENSP00000404902.1:p.Ter277Arg
ENST00000438213.5:c.782+2T>C	ENSP00000415036.1:n.782+2T>C
ENST00000438213.6:c.827+2T>C	ENSP00000415036.2:n.827+2T>C
ENST00000497544.1:n.443+2T>C
ENST00000497544.3:n.443+2T>C
ENST00000636397.1:c.827+2T>C	ENSP00000489910.1:n.827+2T>C
ENST00000636571.1:c.806+2T>C	ENSP00000490770.1:n.806+2T>C
ENST00000636615.1:c.827+2T>C	ENSP00000490014.1:n.827+2T>C
ENST00000636843.1:c.821+2T>C	ENSP00000490897.1:n.821+2T>C
ENST00000637158.1:n.425+2T>C
ENST00000637381.2:n.3255+2T>C
ENST00000637387.1:c.827+2T>C	ENSP00000490598.1:n.827+2T>C
ENST00000637815.2:c.809+20T>C	ENSP00000490344.1:n.809+20T>C
ENST00000637915.1:c.827+2T>C	ENSP00000490471.1:n.827+2T>C
ENST00000637937.1:n.135+2T>C
ENST00000678991.1:c.*688+2T>C	ENSP00000503019.1:n.*688+2T>C