Canonical Allele Identifier: CA379093417

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775129G>C (hg19) ; chr11:g.1753899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753899G>C , CM000673.2:g.1753899G>C	GRCh38
NC_000011.9:g.1775129G>C , CM000673.1:g.1775129G>C	GRCh37
NC_000011.8:g.1731705G>C	NCBI36
NG_008655.1:g.15094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.975C>G MANE Select	ENSP00000236671.2:p.Tyr325Ter
ENST00000367196.4:c.870C>G	ENSP00000356164.4:p.Tyr290Ter
ENST00000427721.3:c.400C>G
ENST00000429746.2:c.870C>G	ENSP00000402586.2:p.Tyr290Ter
ENST00000433655.6:c.*141C>G	ENSP00000404902.1:n.*141C>G
ENST00000438213.6:c.1092C>G	ENSP00000415036.2:p.Tyr364Ter
ENST00000497544.3:n.683C>G
ENST00000636397.1:c.975C>G	ENSP00000489910.1:p.Tyr325Ter
ENST00000636571.1:c.954C>G	ENSP00000490770.1:p.Tyr318Ter
ENST00000636615.1:c.975C>G	ENSP00000490014.1:p.Tyr325Ter
ENST00000636843.1:c.969C>G	ENSP00000490897.1:p.Tyr323Ter
ENST00000637158.1:n.573C>G
ENST00000637381.2:n.3403C>G
ENST00000637387.1:c.973-19C>G	ENSP00000490598.1:n.973-19C>G
ENST00000637815.2:c.957C>G	ENSP00000490344.1:p.Tyr319Ter
ENST00000637915.1:c.975C>G	ENSP00000490471.1:p.Tyr325Ter
ENST00000637937.1:n.283C>G
ENST00000678991.1:c.*836C>G	ENSP00000503019.1:n.*836C>G
ENST00000236671.6:c.975C>G	ENSP00000236671.2:p.Tyr325Ter
ENST00000427721.2:c.375C>G	ENSP00000415840.2:p.Tyr125Ter
ENST00000429746.1:c.306C>G	ENSP00000402586.1:p.Tyr102Ter
ENST00000433655.5:c.*141C>G	ENSP00000404902.1:n.*141C>G
ENST00000497544.1:n.683C>G
NM_001909.4:c.975C>G	NP_001900.1:p.Tyr325Ter
NM_001909.5:c.975C>G MANE Select	NP_001900.1:p.Tyr325Ter