Canonical Allele Identifier: CA379093541

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754004-A-C
• MyVariant Identifiers: chr11:g.1775234A>C (hg19) ; chr11:g.1754004A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754004A>C , CM000673.2:g.1754004A>C	GRCh38
NC_000011.9:g.1775234A>C , CM000673.1:g.1775234A>C	GRCh37
NC_000011.8:g.1731810A>C	NCBI36
NG_008655.1:g.14989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.962T>G MANE Select	ENSP00000236671.2:p.Ile321Ser
ENST00000367196.4:c.857T>G	ENSP00000356164.4:p.Ile286Ser
ENST00000427721.3:c.387T>G
ENST00000429746.2:c.857T>G	ENSP00000402586.2:p.Ile286Ser
ENST00000433655.6:c.*128T>G	ENSP00000404902.1:n.*128T>G
ENST00000438213.6:c.1079T>G	ENSP00000415036.2:p.Ile360Ser
ENST00000497544.3:n.578T>G
ENST00000636397.1:c.962T>G	ENSP00000489910.1:p.Ile321Ser
ENST00000636571.1:c.941T>G	ENSP00000490770.1:p.Ile314Ser
ENST00000636615.1:c.962T>G	ENSP00000490014.1:p.Ile321Ser
ENST00000636843.1:c.956T>G	ENSP00000490897.1:p.Ile319Ser
ENST00000637158.1:n.560T>G
ENST00000637381.2:n.3390T>G
ENST00000637387.1:c.962T>G	ENSP00000490598.1:p.Ile321Ser
ENST00000637815.2:c.944T>G	ENSP00000490344.1:p.Ile315Ser
ENST00000637915.1:c.962T>G	ENSP00000490471.1:p.Ile321Ser
ENST00000637937.1:n.270T>G
ENST00000678991.1:c.*823T>G	ENSP00000503019.1:n.*823T>G
ENST00000236671.6:c.962T>G	ENSP00000236671.2:p.Ile321Ser
ENST00000427721.2:c.362T>G	ENSP00000415840.2:p.Ile121Ser
ENST00000429746.1:c.293T>G	ENSP00000402586.1:p.Ile98Ser
ENST00000433655.5:c.*128T>G	ENSP00000404902.1:n.*128T>G
ENST00000497544.1:n.578T>G
NM_001909.4:c.962T>G	NP_001900.1:p.Ile321Ser
NM_001909.5:c.962T>G MANE Select	NP_001900.1:p.Ile321Ser