Canonical Allele Identifier: CA472140414

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2735398
• ClinVar RCV Id: RCV003531558
• dbSNP Id: rs1294081859
• gnomAD v2: 11-1775102-G-A
• gnomAD v4: 11-1753872-G-A
• MyVariant Identifiers: chr11:g.1775102G>A (hg19) ; chr11:g.1753872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753872G>A , CM000673.2:g.1753872G>A	GRCh38
NC_000011.9:g.1775102G>A , CM000673.1:g.1775102G>A	GRCh37
NC_000011.8:g.1731678G>A	NCBI36
NG_008655.1:g.15121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1002C>T MANE Select	ENSP00000236671.2:p.Thr334=
ENST00000367196.4:c.897C>T	ENSP00000356164.4:p.Thr299=
ENST00000427721.3:c.427C>T
ENST00000429746.2:c.897C>T	ENSP00000402586.2:p.Thr299=
ENST00000433655.6:c.*168C>T	ENSP00000404902.1:n.*168C>T
ENST00000438213.6:c.1119C>T	ENSP00000415036.2:p.Thr373=
ENST00000497544.3:n.710C>T
ENST00000636397.1:c.1002C>T	ENSP00000489910.1:p.Thr334=
ENST00000636571.1:c.981C>T	ENSP00000490770.1:p.Thr327=
ENST00000636579.1:c.3C>T	ENSP00000490489.1:p.Thr1=
ENST00000636615.1:c.1002C>T	ENSP00000490014.1:p.Thr334=
ENST00000636843.1:c.996C>T	ENSP00000490897.1:p.Thr332=
ENST00000637158.1:n.600C>T
ENST00000637381.2:n.3430C>T
ENST00000637387.1:c.981C>T	ENSP00000490598.1:p.Thr327=
ENST00000637815.2:c.984C>T	ENSP00000490344.1:p.Thr328=
ENST00000637915.1:c.1002C>T	ENSP00000490471.1:p.Thr334=
ENST00000637937.1:n.310C>T
ENST00000678991.1:c.*863C>T	ENSP00000503019.1:n.*863C>T
ENST00000236671.6:c.1002C>T	ENSP00000236671.2:p.Thr334=
ENST00000427721.2:c.402C>T	ENSP00000415840.2:p.Thr134=
ENST00000429746.1:c.333C>T	ENSP00000402586.1:p.Thr111=
ENST00000433655.5:c.*168C>T	ENSP00000404902.1:n.*168C>T
ENST00000497544.1:n.710C>T
NM_001909.4:c.1002C>T	NP_001900.1:p.Thr334=
NM_001909.5:c.1002C>T MANE Select	NP_001900.1:p.Thr334=