Canonical Allele Identifier: CA379093708

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775260C>A (hg19) ; chr11:g.1754030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754030C>A , CM000673.2:g.1754030C>A	GRCh38
NC_000011.9:g.1775260C>A , CM000673.1:g.1775260C>A	GRCh37
NC_000011.8:g.1731836C>A	NCBI36
NG_008655.1:g.14963G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.936G>T MANE Select	ENSP00000236671.2:p.Gln312His
ENST00000367196.4:c.831G>T	ENSP00000356164.4:p.Gln277His
ENST00000427721.3:c.361G>T
ENST00000429746.2:c.831G>T	ENSP00000402586.2:p.Gln277His
ENST00000433655.6:c.*102G>T	ENSP00000404902.1:n.*102G>T
ENST00000438213.6:c.1053G>T	ENSP00000415036.2:p.Gln351His
ENST00000497544.3:n.552G>T
ENST00000636397.1:c.936G>T	ENSP00000489910.1:p.Gln312His
ENST00000636571.1:c.915G>T	ENSP00000490770.1:p.Gln305His
ENST00000636615.1:c.936G>T	ENSP00000490014.1:p.Gln312His
ENST00000636843.1:c.930G>T	ENSP00000490897.1:p.Gln310His
ENST00000637158.1:n.534G>T
ENST00000637381.2:n.3364G>T
ENST00000637387.1:c.936G>T	ENSP00000490598.1:p.Gln312His
ENST00000637815.2:c.918G>T	ENSP00000490344.1:p.Gln306His
ENST00000637915.1:c.936G>T	ENSP00000490471.1:p.Gln312His
ENST00000637937.1:n.244G>T
ENST00000678991.1:c.*797G>T	ENSP00000503019.1:n.*797G>T
ENST00000236671.6:c.936G>T	ENSP00000236671.2:p.Gln312His
ENST00000427721.2:c.336G>T	ENSP00000415840.2:p.Gln112His
ENST00000429746.1:c.267G>T	ENSP00000402586.1:p.Gln89His
ENST00000433655.5:c.*102G>T	ENSP00000404902.1:n.*102G>T
ENST00000438213.5:c.891G>T	ENSP00000415036.1:p.Gln297His
ENST00000497544.1:n.552G>T
NM_001909.4:c.936G>T	NP_001900.1:p.Gln312His
NM_001909.5:c.936G>T MANE Select	NP_001900.1:p.Gln312His