Canonical Allele Identifier: CA472139875

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1774805G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753575G>A , CM000673.2:g.1753575G>A	GRCh38
NC_000011.9:g.1774805G>A , CM000673.1:g.1774805G>A	GRCh37
NC_000011.8:g.1731381G>A	NCBI36
NG_008655.1:g.15418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1167C>T MANE Select	ENSP00000236671.2:p.Phe389=
ENST00000367196.4:c.1062C>T	ENSP00000356164.4:p.Phe354=
ENST00000427721.3:c.592C>T
ENST00000429746.2:c.1062C>T	ENSP00000402586.2:p.Phe354=
ENST00000433655.6:c.*333C>T	ENSP00000404902.1:n.*333C>T
ENST00000438213.6:c.1284C>T	ENSP00000415036.2:p.Phe428=
ENST00000636397.1:c.1071+228C>T	ENSP00000489910.1:n.1071+228C>T
ENST00000636571.1:c.1146C>T	ENSP00000490770.1:p.Phe382=
ENST00000636579.1:c.72+228C>T	ENSP00000490489.1:n.72+228C>T
ENST00000636615.1:c.1071+228C>T	ENSP00000490014.1:n.1071+228C>T
ENST00000636843.1:c.1161C>T	ENSP00000490897.1:p.Phe387=
ENST00000637158.1:n.765C>T
ENST00000637381.2:n.3595C>T
ENST00000637387.1:c.1146C>T	ENSP00000490598.1:p.Phe382=
ENST00000637815.2:c.1149C>T	ENSP00000490344.1:p.Phe383=
ENST00000637915.1:c.1158C>T	ENSP00000490471.1:p.Phe386=
ENST00000637937.1:n.475C>T
ENST00000678991.1:c.*1028C>T	ENSP00000503019.1:n.*1028C>T
ENST00000236671.6:c.1167C>T	ENSP00000236671.2:p.Phe389=
ENST00000427721.2:c.471+228C>T	ENSP00000415840.2:n.471+228C>T
ENST00000429746.1:c.498C>T	ENSP00000402586.1:p.Phe166=
ENST00000433655.5:c.*333C>T	ENSP00000404902.1:n.*333C>T
NM_001909.4:c.1167C>T	NP_001900.1:p.Phe389=
NM_001909.5:c.1167C>T MANE Select	NP_001900.1:p.Phe389=