Canonical Allele Identifier: CA379095324

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1776205T>G (hg19) ; chr11:g.1754975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754975T>G , CM000673.2:g.1754975T>G	GRCh38
NC_000011.9:g.1776205T>G , CM000673.1:g.1776205T>G	GRCh37
NC_000011.8:g.1732781T>G	NCBI36
NG_008655.1:g.14018A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.758A>C MANE Select	ENSP00000236671.2:p.Lys253Thr
ENST00000367196.4:c.653A>C	ENSP00000356164.4:p.Lys218Thr
ENST00000427721.3:c.183A>C
ENST00000429746.2:c.653A>C	ENSP00000402586.2:p.Lys218Thr
ENST00000433655.6:c.758A>C	ENSP00000404902.1:p.Lys253Thr
ENST00000438213.6:c.758A>C	ENSP00000415036.2:p.Lys253Thr
ENST00000497544.3:n.374A>C
ENST00000636397.1:c.758A>C	ENSP00000489910.1:p.Lys253Thr
ENST00000636571.1:c.737A>C	ENSP00000490770.1:p.Lys246Thr
ENST00000636615.1:c.758A>C	ENSP00000490014.1:p.Lys253Thr
ENST00000636843.1:c.752A>C	ENSP00000490897.1:p.Lys251Thr
ENST00000637158.1:n.356A>C
ENST00000637381.2:n.3186A>C
ENST00000637387.1:c.758A>C	ENSP00000490598.1:p.Lys253Thr
ENST00000637815.2:c.758A>C	ENSP00000490344.1:p.Lys253Thr
ENST00000637915.1:c.758A>C	ENSP00000490471.1:p.Lys253Thr
ENST00000637937.1:n.66A>C
ENST00000678991.1:c.*619A>C	ENSP00000503019.1:n.*619A>C
ENST00000236671.6:c.758A>C	ENSP00000236671.2:p.Lys253Thr
ENST00000427721.2:c.158A>C	ENSP00000415840.2:p.Lys53Thr
ENST00000433655.5:c.758A>C	ENSP00000404902.1:p.Lys253Thr
ENST00000438213.5:c.713A>C	ENSP00000415036.1:p.Lys238Thr
ENST00000497544.1:n.374A>C
NM_001909.4:c.758A>C	NP_001900.1:p.Lys253Thr
NM_001909.5:c.758A>C MANE Select	NP_001900.1:p.Lys253Thr