Canonical Allele Identifier: CA5814111

Gene: CTSD

Linked Data

• ClinVar Variation Id: 700124
• ClinVar RCV Id: RCV000868179 ; RCV001500461
• dbSNP Id: rs142330967
• ExAC: 11:1778561 G / A
• gnomAD v2: 11-1778561-G-A
• gnomAD v3: 11-1757331-G-A
• gnomAD v4: 11-1757331-G-A
• MyVariant Identifiers: chr11:g.1778561G>A (hg19) ; chr11:g.1757331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757331G>A , CM000673.2:g.1757331G>A	GRCh38
NC_000011.9:g.1778561G>A , CM000673.1:g.1778561G>A	GRCh37
NC_000011.8:g.1735137G>A	NCBI36
NG_008655.1:g.11662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.697C>T MANE Select	ENSP00000236671.2:p.Leu233=
ENST00000367196.4:c.592C>T	ENSP00000356164.4:p.Leu198=
ENST00000427721.3:c.122C>T
ENST00000429746.2:c.592C>T	ENSP00000402586.2:p.Leu198=
ENST00000433655.6:c.697C>T	ENSP00000404902.1:p.Leu233=
ENST00000438213.6:c.697C>T	ENSP00000415036.2:p.Leu233=
ENST00000636397.1:c.697C>T	ENSP00000489910.1:p.Leu233=
ENST00000636571.1:c.676C>T	ENSP00000490770.1:p.Leu226=
ENST00000636615.1:c.697C>T	ENSP00000490014.1:p.Leu233=
ENST00000636843.1:c.691C>T	ENSP00000490897.1:p.Leu231=
ENST00000637158.1:n.295C>T
ENST00000637381.2:n.3125C>T
ENST00000637387.1:c.697C>T	ENSP00000490598.1:p.Leu233=
ENST00000637815.2:c.697C>T	ENSP00000490344.1:p.Leu233=
ENST00000637915.1:c.697C>T	ENSP00000490471.1:p.Leu233=
ENST00000678991.1:c.*558C>T	ENSP00000503019.1:n.*558C>T
ENST00000236671.6:c.697C>T	ENSP00000236671.2:p.Leu233=
ENST00000367196.3:c.592C>T	ENSP00000356164.3:p.Leu198=
ENST00000427721.2:c.97C>T	ENSP00000415840.2:p.Leu33=
ENST00000433655.5:c.697C>T	ENSP00000404902.1:p.Leu233=
ENST00000438213.5:c.652C>T	ENSP00000415036.1:p.Leu218=
NM_001909.4:c.697C>T	NP_001900.1:p.Leu233=
NM_001909.5:c.697C>T MANE Select	NP_001900.1:p.Leu233=