Canonical Allele Identifier: CA379092737

Gene: CTSD

Linked Data

• dbSNP Id: rs1845756092
• MyVariant Identifiers: chr11:g.1774879G>A (hg19) ; chr11:g.1753649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753649G>A , CM000673.2:g.1753649G>A	GRCh38
NC_000011.9:g.1774879G>A , CM000673.1:g.1774879G>A	GRCh37
NC_000011.8:g.1731455G>A	NCBI36
NG_008655.1:g.15344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1093C>T MANE Select	ENSP00000236671.2:p.Leu365Phe
ENST00000367196.4:c.988C>T	ENSP00000356164.4:p.Leu330Phe
ENST00000427721.3:c.518C>T
ENST00000429746.2:c.988C>T	ENSP00000402586.2:p.Leu330Phe
ENST00000433655.6:c.*259C>T	ENSP00000404902.1:n.*259C>T
ENST00000438213.6:c.1210C>T	ENSP00000415036.2:p.Leu404Phe
ENST00000636397.1:c.1071+154C>T	ENSP00000489910.1:n.1071+154C>T
ENST00000636571.1:c.1072C>T	ENSP00000490770.1:p.Leu358Phe
ENST00000636579.1:c.72+154C>T	ENSP00000490489.1:n.72+154C>T
ENST00000636615.1:c.1071+154C>T	ENSP00000490014.1:n.1071+154C>T
ENST00000636843.1:c.1087C>T	ENSP00000490897.1:p.Leu363Phe
ENST00000637158.1:n.691C>T
ENST00000637381.2:n.3521C>T
ENST00000637387.1:c.1072C>T	ENSP00000490598.1:p.Leu358Phe
ENST00000637815.2:c.1075C>T	ENSP00000490344.1:p.Leu359Phe
ENST00000637915.1:c.1084C>T	ENSP00000490471.1:p.Leu362Phe
ENST00000637937.1:n.401C>T
ENST00000678991.1:c.*954C>T	ENSP00000503019.1:n.*954C>T
ENST00000236671.6:c.1093C>T	ENSP00000236671.2:p.Leu365Phe
ENST00000427721.2:c.471+154C>T	ENSP00000415840.2:n.471+154C>T
ENST00000429746.1:c.424C>T	ENSP00000402586.1:p.Leu142Phe
ENST00000433655.5:c.*259C>T	ENSP00000404902.1:n.*259C>T
NM_001909.4:c.1093C>T	NP_001900.1:p.Leu365Phe
NM_001909.5:c.1093C>T MANE Select	NP_001900.1:p.Leu365Phe