Canonical Allele Identifier: CA379092312

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1923607
• ClinVar RCV Id: RCV002604778
• dbSNP Id: rs1412753935
• gnomAD v4: 11-1753508-G-A
• MyVariant Identifiers: chr11:g.1774738G>A (hg19) ; chr11:g.1753508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753508G>A , CM000673.2:g.1753508G>A	GRCh38
NC_000011.9:g.1774738G>A , CM000673.1:g.1774738G>A	GRCh37
NC_000011.8:g.1731314G>A	NCBI36
NG_008655.1:g.15485C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1234C>T MANE Select	ENSP00000236671.2:p.Leu412Phe
ENST00000367196.4:c.1129C>T	ENSP00000356164.4:p.Leu377Phe
ENST00000427721.3:c.634+25C>T
ENST00000429746.2:c.1129C>T	ENSP00000402586.2:p.Leu377Phe
ENST00000433655.6:c.*400C>T	ENSP00000404902.1:n.*400C>T
ENST00000438213.6:c.1351C>T	ENSP00000415036.2:p.Leu451Phe
ENST00000636397.1:c.1071+295C>T	ENSP00000489910.1:n.1071+295C>T
ENST00000636571.1:c.1213C>T	ENSP00000490770.1:p.Leu405Phe
ENST00000636579.1:c.72+295C>T	ENSP00000490489.1:n.72+295C>T
ENST00000636615.1:c.1071+295C>T	ENSP00000490014.1:n.1071+295C>T
ENST00000636843.1:c.1228C>T	ENSP00000490897.1:p.Leu410Phe
ENST00000637158.1:n.832C>T
ENST00000637381.2:n.3662C>T
ENST00000637387.1:c.1213C>T	ENSP00000490598.1:p.Leu405Phe
ENST00000637815.2:c.1216C>T	ENSP00000490344.1:p.Leu406Phe
ENST00000637915.1:c.1225C>T	ENSP00000490471.1:p.Leu409Phe
ENST00000637937.1:n.542C>T
ENST00000678991.1:c.*1095C>T	ENSP00000503019.1:n.*1095C>T
ENST00000236671.6:c.1234C>T	ENSP00000236671.2:p.Leu412Phe
ENST00000427721.2:c.471+295C>T	ENSP00000415840.2:n.471+295C>T
ENST00000429746.1:c.565C>T	ENSP00000402586.1:p.Leu189Phe
ENST00000433655.5:c.*400C>T	ENSP00000404902.1:n.*400C>T
NM_001909.4:c.1234C>T	NP_001900.1:p.Leu412Phe
NM_001909.5:c.1234C>T MANE Select	NP_001900.1:p.Leu412Phe