Canonical Allele Identifier: CA379093150

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775068C>A (hg19) ; chr11:g.1753838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753838C>A , CM000673.2:g.1753838C>A	GRCh38
NC_000011.9:g.1775068C>A , CM000673.1:g.1775068C>A	GRCh37
NC_000011.8:g.1731644C>A	NCBI36
NG_008655.1:g.15155G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1036G>T MANE Select	ENSP00000236671.2:p.Gly346Cys
ENST00000367196.4:c.931G>T	ENSP00000356164.4:p.Gly311Cys
ENST00000427721.3:c.461G>T
ENST00000429746.2:c.931G>T	ENSP00000402586.2:p.Gly311Cys
ENST00000433655.6:c.*202G>T	ENSP00000404902.1:n.*202G>T
ENST00000438213.6:c.1153G>T	ENSP00000415036.2:p.Gly385Cys
ENST00000497544.3:n.744G>T
ENST00000636397.1:c.1036G>T	ENSP00000489910.1:p.Gly346Cys
ENST00000636571.1:c.1015G>T	ENSP00000490770.1:p.Gly339Cys
ENST00000636579.1:c.37G>T	ENSP00000490489.1:p.Gly13Cys
ENST00000636615.1:c.1036G>T	ENSP00000490014.1:p.Gly346Cys
ENST00000636843.1:c.1030G>T	ENSP00000490897.1:p.Gly344Cys
ENST00000637158.1:n.634G>T
ENST00000637381.2:n.3464G>T
ENST00000637387.1:c.1015G>T	ENSP00000490598.1:p.Gly339Cys
ENST00000637815.2:c.1018G>T	ENSP00000490344.1:p.Gly340Cys
ENST00000637915.1:c.1036G>T	ENSP00000490471.1:p.Gly346Cys
ENST00000637937.1:n.344G>T
ENST00000678991.1:c.*897G>T	ENSP00000503019.1:n.*897G>T
ENST00000236671.6:c.1036G>T	ENSP00000236671.2:p.Gly346Cys
ENST00000427721.2:c.436G>T	ENSP00000415840.2:p.Gly146Cys
ENST00000429746.1:c.367G>T	ENSP00000402586.1:p.Gly123Cys
ENST00000433655.5:c.*202G>T	ENSP00000404902.1:n.*202G>T
ENST00000497544.1:n.744G>T
NM_001909.4:c.1036G>T	NP_001900.1:p.Gly346Cys
NM_001909.5:c.1036G>T MANE Select	NP_001900.1:p.Gly346Cys