Canonical Allele Identifier: CA5814062

Gene: CTSD

Linked Data

• ClinVar Variation Id: 392231
• ClinVar RCV Id: RCV000420091 ; RCV001037357 ; RCV001335880
• dbSNP Id: rs145905196
• ExAC: 11:1776146 G / A
• gnomAD v2: 11-1776146-G-A
• gnomAD v3: 11-1754916-G-A
• gnomAD v4: 11-1754916-G-A
• MyVariant Identifiers: chr11:g.1776146G>A (hg19) ; chr11:g.1754916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754916G>A , CM000673.2:g.1754916G>A	GRCh38
NC_000011.9:g.1776146G>A , CM000673.1:g.1776146G>A	GRCh37
NC_000011.8:g.1732722G>A	NCBI36
NG_008655.1:g.14077C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.817C>T MANE Select	ENSP00000236671.2:p.His273Tyr
ENST00000367196.4:c.712C>T	ENSP00000356164.4:p.His238Tyr
ENST00000427721.3:c.242C>T
ENST00000429746.2:c.712C>T	ENSP00000402586.2:p.His238Tyr
ENST00000433655.6:c.817C>T	ENSP00000404902.1:p.His273Tyr
ENST00000438213.6:c.817C>T	ENSP00000415036.2:p.His273Tyr
ENST00000497544.3:n.433C>T
ENST00000636397.1:c.817C>T	ENSP00000489910.1:p.His273Tyr
ENST00000636571.1:c.796C>T	ENSP00000490770.1:p.His266Tyr
ENST00000636615.1:c.817C>T	ENSP00000490014.1:p.His273Tyr
ENST00000636843.1:c.811C>T	ENSP00000490897.1:p.His271Tyr
ENST00000637158.1:n.415C>T
ENST00000637381.2:n.3245C>T
ENST00000637387.1:c.817C>T	ENSP00000490598.1:p.His273Tyr
ENST00000637815.2:c.809+8C>T	ENSP00000490344.1:n.809+8C>T
ENST00000637915.1:c.817C>T	ENSP00000490471.1:p.His273Tyr
ENST00000637937.1:n.125C>T
ENST00000678991.1:c.*678C>T	ENSP00000503019.1:n.*678C>T
ENST00000236671.6:c.817C>T	ENSP00000236671.2:p.His273Tyr
ENST00000427721.2:c.217C>T	ENSP00000415840.2:p.His73Tyr
ENST00000429746.1:c.31C>T	ENSP00000402586.1:p.His11Tyr
ENST00000433655.5:c.817C>T	ENSP00000404902.1:p.His273Tyr
ENST00000438213.5:c.772C>T	ENSP00000415036.1:p.His258Tyr
ENST00000497544.1:n.433C>T
NM_001909.4:c.817C>T	NP_001900.1:p.His273Tyr
NM_001909.5:c.817C>T MANE Select	NP_001900.1:p.His273Tyr