Canonical Allele Identifier: CA5813986

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1009383
• ClinVar RCV Id: RCV001306863
• dbSNP Id: rs774332555
• ExAC: 11:1775227 G / A
• gnomAD v2: 11-1775227-G-A
• gnomAD v3: 11-1753997-G-A
• gnomAD v4: 11-1753997-G-A
• MyVariant Identifiers: chr11:g.1775227G>A (hg19) ; chr11:g.1753997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753997G>A , CM000673.2:g.1753997G>A	GRCh38
NC_000011.9:g.1775227G>A , CM000673.1:g.1775227G>A	GRCh37
NC_000011.8:g.1731803G>A	NCBI36
NG_008655.1:g.14996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.969C>T MANE Select	ENSP00000236671.2:p.Gly323=
ENST00000367196.4:c.864C>T	ENSP00000356164.4:p.Gly288=
ENST00000427721.3:c.394C>T
ENST00000429746.2:c.864C>T	ENSP00000402586.2:p.Gly288=
ENST00000433655.6:c.*135C>T	ENSP00000404902.1:n.*135C>T
ENST00000438213.6:c.1086C>T	ENSP00000415036.2:p.Gly362=
ENST00000497544.3:n.585C>T
ENST00000636397.1:c.969C>T	ENSP00000489910.1:p.Gly323=
ENST00000636571.1:c.948C>T	ENSP00000490770.1:p.Gly316=
ENST00000636615.1:c.969C>T	ENSP00000490014.1:p.Gly323=
ENST00000636843.1:c.963C>T	ENSP00000490897.1:p.Gly321=
ENST00000637158.1:n.567C>T
ENST00000637381.2:n.3397C>T
ENST00000637387.1:c.969C>T	ENSP00000490598.1:p.Gly323=
ENST00000637815.2:c.951C>T	ENSP00000490344.1:p.Gly317=
ENST00000637915.1:c.969C>T	ENSP00000490471.1:p.Gly323=
ENST00000637937.1:n.277C>T
ENST00000678991.1:c.*830C>T	ENSP00000503019.1:n.*830C>T
ENST00000236671.6:c.969C>T	ENSP00000236671.2:p.Gly323=
ENST00000427721.2:c.369C>T	ENSP00000415840.2:p.Gly123=
ENST00000429746.1:c.300C>T	ENSP00000402586.1:p.Gly100=
ENST00000433655.5:c.*135C>T	ENSP00000404902.1:n.*135C>T
ENST00000497544.1:n.585C>T
NM_001909.4:c.969C>T	NP_001900.1:p.Gly323=
NM_001909.5:c.969C>T MANE Select	NP_001900.1:p.Gly323=