Canonical Allele Identifier: CA379092556

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753601-G-A
• MyVariant Identifiers: chr11:g.1774831G>A (hg19) ; chr11:g.1753601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753601G>A , CM000673.2:g.1753601G>A	GRCh38
NC_000011.9:g.1774831G>A , CM000673.1:g.1774831G>A	GRCh37
NC_000011.8:g.1731407G>A	NCBI36
NG_008655.1:g.15392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1141C>T MANE Select	ENSP00000236671.2:p.Pro381Ser
ENST00000367196.4:c.1036C>T	ENSP00000356164.4:p.Pro346Ser
ENST00000427721.3:c.566C>T
ENST00000429746.2:c.1036C>T	ENSP00000402586.2:p.Pro346Ser
ENST00000433655.6:c.*307C>T	ENSP00000404902.1:n.*307C>T
ENST00000438213.6:c.1258C>T	ENSP00000415036.2:p.Pro420Ser
ENST00000636397.1:c.1071+202C>T	ENSP00000489910.1:n.1071+202C>T
ENST00000636571.1:c.1120C>T	ENSP00000490770.1:p.Pro374Ser
ENST00000636579.1:c.72+202C>T	ENSP00000490489.1:n.72+202C>T
ENST00000636615.1:c.1071+202C>T	ENSP00000490014.1:n.1071+202C>T
ENST00000636843.1:c.1135C>T	ENSP00000490897.1:p.Pro379Ser
ENST00000637158.1:n.739C>T
ENST00000637381.2:n.3569C>T
ENST00000637387.1:c.1120C>T	ENSP00000490598.1:p.Pro374Ser
ENST00000637815.2:c.1123C>T	ENSP00000490344.1:p.Pro375Ser
ENST00000637915.1:c.1132C>T	ENSP00000490471.1:p.Pro378Ser
ENST00000637937.1:n.449C>T
ENST00000678991.1:c.*1002C>T	ENSP00000503019.1:n.*1002C>T
ENST00000236671.6:c.1141C>T	ENSP00000236671.2:p.Pro381Ser
ENST00000427721.2:c.471+202C>T	ENSP00000415840.2:n.471+202C>T
ENST00000429746.1:c.472C>T	ENSP00000402586.1:p.Pro158Ser
ENST00000433655.5:c.*307C>T	ENSP00000404902.1:n.*307C>T
NM_001909.4:c.1141C>T	NP_001900.1:p.Pro381Ser
NM_001909.5:c.1141C>T MANE Select	NP_001900.1:p.Pro381Ser