Canonical Allele Identifier: CA472140404

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753587-C-T
• MyVariant Identifiers: chr11:g.1774817C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753587C>T , CM000673.2:g.1753587C>T	GRCh38
NC_000011.9:g.1774817C>T , CM000673.1:g.1774817C>T	GRCh37
NC_000011.8:g.1731393C>T	NCBI36
NG_008655.1:g.15406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1155G>A MANE Select	ENSP00000236671.2:p.Leu385=
ENST00000367196.4:c.1050G>A	ENSP00000356164.4:p.Leu350=
ENST00000427721.3:c.580G>A
ENST00000429746.2:c.1050G>A	ENSP00000402586.2:p.Leu350=
ENST00000433655.6:c.*321G>A	ENSP00000404902.1:n.*321G>A
ENST00000438213.6:c.1272G>A	ENSP00000415036.2:p.Leu424=
ENST00000636397.1:c.1071+216G>A	ENSP00000489910.1:n.1071+216G>A
ENST00000636571.1:c.1134G>A	ENSP00000490770.1:p.Leu378=
ENST00000636579.1:c.72+216G>A	ENSP00000490489.1:n.72+216G>A
ENST00000636615.1:c.1071+216G>A	ENSP00000490014.1:n.1071+216G>A
ENST00000636843.1:c.1149G>A	ENSP00000490897.1:p.Leu383=
ENST00000637158.1:n.753G>A
ENST00000637381.2:n.3583G>A
ENST00000637387.1:c.1134G>A	ENSP00000490598.1:p.Leu378=
ENST00000637815.2:c.1137G>A	ENSP00000490344.1:p.Leu379=
ENST00000637915.1:c.1146G>A	ENSP00000490471.1:p.Leu382=
ENST00000637937.1:n.463G>A
ENST00000678991.1:c.*1016G>A	ENSP00000503019.1:n.*1016G>A
ENST00000236671.6:c.1155G>A	ENSP00000236671.2:p.Leu385=
ENST00000427721.2:c.471+216G>A	ENSP00000415840.2:n.471+216G>A
ENST00000429746.1:c.486G>A	ENSP00000402586.1:p.Leu162=
ENST00000433655.5:c.*321G>A	ENSP00000404902.1:n.*321G>A
NM_001909.4:c.1155G>A	NP_001900.1:p.Leu385=
NM_001909.5:c.1155G>A MANE Select	NP_001900.1:p.Leu385=