Canonical Allele Identifier: CA379095353

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1776211T>G (hg19) ; chr11:g.1754981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754981T>G , CM000673.2:g.1754981T>G	GRCh38
NC_000011.9:g.1776211T>G , CM000673.1:g.1776211T>G	GRCh37
NC_000011.8:g.1732787T>G	NCBI36
NG_008655.1:g.14012A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.752A>C MANE Select	ENSP00000236671.2:p.Asp251Ala
ENST00000367196.4:c.647A>C	ENSP00000356164.4:p.Asp216Ala
ENST00000427721.3:c.177A>C
ENST00000429746.2:c.647A>C	ENSP00000402586.2:p.Asp216Ala
ENST00000433655.6:c.752A>C	ENSP00000404902.1:p.Asp251Ala
ENST00000438213.6:c.752A>C	ENSP00000415036.2:p.Asp251Ala
ENST00000497544.3:n.368A>C
ENST00000636397.1:c.752A>C	ENSP00000489910.1:p.Asp251Ala
ENST00000636571.1:c.731A>C	ENSP00000490770.1:p.Asp244Ala
ENST00000636615.1:c.752A>C	ENSP00000490014.1:p.Asp251Ala
ENST00000636843.1:c.746A>C	ENSP00000490897.1:p.Asp249Ala
ENST00000637158.1:n.350A>C
ENST00000637381.2:n.3180A>C
ENST00000637387.1:c.752A>C	ENSP00000490598.1:p.Asp251Ala
ENST00000637815.2:c.752A>C	ENSP00000490344.1:p.Asp251Ala
ENST00000637915.1:c.752A>C	ENSP00000490471.1:p.Asp251Ala
ENST00000637937.1:n.60A>C
ENST00000678991.1:c.*613A>C	ENSP00000503019.1:n.*613A>C
ENST00000236671.6:c.752A>C	ENSP00000236671.2:p.Asp251Ala
ENST00000427721.2:c.152A>C	ENSP00000415840.2:p.Asp51Ala
ENST00000433655.5:c.752A>C	ENSP00000404902.1:p.Asp251Ala
ENST00000438213.5:c.707A>C	ENSP00000415036.1:p.Asp236Ala
ENST00000497544.1:n.368A>C
NM_001909.4:c.752A>C	NP_001900.1:p.Asp251Ala
NM_001909.5:c.752A>C MANE Select	NP_001900.1:p.Asp251Ala