Canonical Allele Identifier: CA379093591

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754011-G-A
• MyVariant Identifiers: chr11:g.1775241G>A (hg19) ; chr11:g.1754011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754011G>A , CM000673.2:g.1754011G>A	GRCh38
NC_000011.9:g.1775241G>A , CM000673.1:g.1775241G>A	GRCh37
NC_000011.8:g.1731817G>A	NCBI36
NG_008655.1:g.14982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.955C>T MANE Select	ENSP00000236671.2:p.Pro319Ser
ENST00000367196.4:c.850C>T	ENSP00000356164.4:p.Pro284Ser
ENST00000427721.3:c.380C>T
ENST00000429746.2:c.850C>T	ENSP00000402586.2:p.Pro284Ser
ENST00000433655.6:c.*121C>T	ENSP00000404902.1:n.*121C>T
ENST00000438213.6:c.1072C>T	ENSP00000415036.2:p.Pro358Ser
ENST00000497544.3:n.571C>T
ENST00000636397.1:c.955C>T	ENSP00000489910.1:p.Pro319Ser
ENST00000636571.1:c.934C>T	ENSP00000490770.1:p.Pro312Ser
ENST00000636615.1:c.955C>T	ENSP00000490014.1:p.Pro319Ser
ENST00000636843.1:c.949C>T	ENSP00000490897.1:p.Pro317Ser
ENST00000637158.1:n.553C>T
ENST00000637381.2:n.3383C>T
ENST00000637387.1:c.955C>T	ENSP00000490598.1:p.Pro319Ser
ENST00000637815.2:c.937C>T	ENSP00000490344.1:p.Pro313Ser
ENST00000637915.1:c.955C>T	ENSP00000490471.1:p.Pro319Ser
ENST00000637937.1:n.263C>T
ENST00000678991.1:c.*816C>T	ENSP00000503019.1:n.*816C>T
ENST00000236671.6:c.955C>T	ENSP00000236671.2:p.Pro319Ser
ENST00000427721.2:c.355C>T	ENSP00000415840.2:p.Pro119Ser
ENST00000429746.1:c.286C>T	ENSP00000402586.1:p.Pro96Ser
ENST00000433655.5:c.*121C>T	ENSP00000404902.1:n.*121C>T
ENST00000497544.1:n.571C>T
NM_001909.4:c.955C>T	NP_001900.1:p.Pro319Ser
NM_001909.5:c.955C>T MANE Select	NP_001900.1:p.Pro319Ser