Canonical Allele Identifier: CA471988229

Gene: CTSD

Linked Data

• gnomAD v4: 11-1759517-G-A
• MyVariant Identifiers: chr11:g.1780747G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759517G>A , CM000673.2:g.1759517G>A	GRCh38
NC_000011.9:g.1780747G>A , CM000673.1:g.1780747G>A	GRCh37
NC_000011.8:g.1737323G>A	NCBI36
NG_008655.1:g.9476C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.351C>T MANE Select	ENSP00000236671.2:p.Cys117=
ENST00000367196.4:c.246C>T	ENSP00000356164.4:p.Cys82=
ENST00000429746.2:c.246C>T	ENSP00000402586.2:p.Cys82=
ENST00000433655.6:c.351C>T	ENSP00000404902.1:p.Cys117=
ENST00000438213.6:c.351C>T	ENSP00000415036.2:p.Cys117=
ENST00000636397.1:c.351C>T	ENSP00000489910.1:p.Cys117=
ENST00000636571.1:c.330C>T	ENSP00000490770.1:p.Cys110=
ENST00000636615.1:c.351C>T	ENSP00000490014.1:p.Cys117=
ENST00000636843.1:c.345C>T	ENSP00000490897.1:p.Cys115=
ENST00000637381.2:n.2779C>T
ENST00000637387.1:c.351C>T	ENSP00000490598.1:p.Cys117=
ENST00000637815.2:c.351C>T	ENSP00000490344.1:p.Cys117=
ENST00000637915.1:c.351C>T	ENSP00000490471.1:p.Cys117=
ENST00000677300.1:n.746C>T
ENST00000678991.1:c.*212C>T	ENSP00000503019.1:n.*212C>T
ENST00000236671.6:c.351C>T	ENSP00000236671.2:p.Cys117=
ENST00000367196.3:c.246C>T	ENSP00000356164.3:p.Cys82=
ENST00000433655.5:c.351C>T	ENSP00000404902.1:p.Cys117=
ENST00000438213.5:c.306C>T	ENSP00000415036.1:p.Cys102=
NM_001909.4:c.351C>T	NP_001900.1:p.Cys117=
NM_001909.5:c.351C>T MANE Select	NP_001900.1:p.Cys117=