Canonical Allele Identifier: CA379095993

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778633T>G (hg19) ; chr11:g.1757403T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757403T>G , CM000673.2:g.1757403T>G	GRCh38
NC_000011.9:g.1778633T>G , CM000673.1:g.1778633T>G	GRCh37
NC_000011.8:g.1735209T>G	NCBI36
NG_008655.1:g.11590A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.625A>C MANE Select	ENSP00000236671.2:p.Asn209His
ENST00000367196.4:c.520A>C	ENSP00000356164.4:p.Asn174His
ENST00000427721.3:c.50A>C
ENST00000429746.2:c.520A>C	ENSP00000402586.2:p.Asn174His
ENST00000433655.6:c.625A>C	ENSP00000404902.1:p.Asn209His
ENST00000438213.6:c.625A>C	ENSP00000415036.2:p.Asn209His
ENST00000636397.1:c.625A>C	ENSP00000489910.1:p.Asn209His
ENST00000636571.1:c.604A>C	ENSP00000490770.1:p.Asn202His
ENST00000636615.1:c.625A>C	ENSP00000490014.1:p.Asn209His
ENST00000636843.1:c.619A>C	ENSP00000490897.1:p.Asn207His
ENST00000637158.1:n.223A>C
ENST00000637381.2:n.3053A>C
ENST00000637387.1:c.625A>C	ENSP00000490598.1:p.Asn209His
ENST00000637815.2:c.625A>C	ENSP00000490344.1:p.Asn209His
ENST00000637915.1:c.625A>C	ENSP00000490471.1:p.Asn209His
ENST00000677300.1:n.1020A>C
ENST00000678991.1:c.*486A>C	ENSP00000503019.1:n.*486A>C
ENST00000236671.6:c.625A>C	ENSP00000236671.2:p.Asn209His
ENST00000367196.3:c.520A>C	ENSP00000356164.3:p.Asn174His
ENST00000427721.2:c.25A>C	ENSP00000415840.2:p.Asn9His
ENST00000433655.5:c.625A>C	ENSP00000404902.1:p.Asn209His
ENST00000438213.5:c.580A>C	ENSP00000415036.1:p.Asn194His
NM_001909.4:c.625A>C	NP_001900.1:p.Asn209His
NM_001909.5:c.625A>C MANE Select	NP_001900.1:p.Asn209His