Canonical Allele Identifier: CA290526

Gene: CTSD

Linked Data

• ClinVar Variation Id: 137041
• ClinVar RCV Id: RCV000124625 ; RCV000268185 ; RCV000473433
• dbSNP Id: rs78306946
• ExAC: 11:1775245 G / A
• gnomAD v2: 11-1775245-G-A
• gnomAD v3: 11-1754015-G-A
• gnomAD v4: 11-1754015-G-A
• MyVariant Identifiers: chr11:g.1775245G>A (hg19) ; chr11:g.1754015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754015G>A , CM000673.2:g.1754015G>A	GRCh38
NC_000011.9:g.1775245G>A , CM000673.1:g.1775245G>A	GRCh37
NC_000011.8:g.1731821G>A	NCBI36
NG_008655.1:g.14978C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.951C>T MANE Select	ENSP00000236671.2:p.Ala317=
ENST00000367196.4:c.846C>T	ENSP00000356164.4:p.Ala282=
ENST00000427721.3:c.376C>T
ENST00000429746.2:c.846C>T	ENSP00000402586.2:p.Ala282=
ENST00000433655.6:c.*117C>T	ENSP00000404902.1:n.*117C>T
ENST00000438213.6:c.1068C>T	ENSP00000415036.2:p.Ala356=
ENST00000497544.3:n.567C>T
ENST00000636397.1:c.951C>T	ENSP00000489910.1:p.Ala317=
ENST00000636571.1:c.930C>T	ENSP00000490770.1:p.Ala310=
ENST00000636615.1:c.951C>T	ENSP00000490014.1:p.Ala317=
ENST00000636843.1:c.945C>T	ENSP00000490897.1:p.Ala315=
ENST00000637158.1:n.549C>T
ENST00000637381.2:n.3379C>T
ENST00000637387.1:c.951C>T	ENSP00000490598.1:p.Ala317=
ENST00000637815.2:c.933C>T	ENSP00000490344.1:p.Ala311=
ENST00000637915.1:c.951C>T	ENSP00000490471.1:p.Ala317=
ENST00000637937.1:n.259C>T
ENST00000678991.1:c.*812C>T	ENSP00000503019.1:n.*812C>T
ENST00000236671.6:c.951C>T	ENSP00000236671.2:p.Ala317=
ENST00000427721.2:c.351C>T	ENSP00000415840.2:p.Ala117=
ENST00000429746.1:c.282C>T	ENSP00000402586.1:p.Ala94=
ENST00000433655.5:c.*117C>T	ENSP00000404902.1:n.*117C>T
ENST00000497544.1:n.567C>T
NM_001909.4:c.951C>T	NP_001900.1:p.Ala317=
NM_001909.5:c.951C>T MANE Select	NP_001900.1:p.Ala317=