Canonical Allele Identifier: CA379095816

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778556G>C (hg19) ; chr11:g.1757326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757326G>C , CM000673.2:g.1757326G>C	GRCh38
NC_000011.9:g.1778556G>C , CM000673.1:g.1778556G>C	GRCh37
NC_000011.8:g.1735132G>C	NCBI36
NG_008655.1:g.11667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.702C>G MANE Select	ENSP00000236671.2:p.Ser234Arg
ENST00000367196.4:c.597C>G	ENSP00000356164.4:p.Ser199Arg
ENST00000427721.3:c.127C>G
ENST00000429746.2:c.597C>G	ENSP00000402586.2:p.Ser199Arg
ENST00000433655.6:c.702C>G	ENSP00000404902.1:p.Ser234Arg
ENST00000438213.6:c.702C>G	ENSP00000415036.2:p.Ser234Arg
ENST00000636397.1:c.702C>G	ENSP00000489910.1:p.Ser234Arg
ENST00000636571.1:c.681C>G	ENSP00000490770.1:p.Ser227Arg
ENST00000636615.1:c.702C>G	ENSP00000490014.1:p.Ser234Arg
ENST00000636843.1:c.696C>G	ENSP00000490897.1:p.Ser232Arg
ENST00000637158.1:n.300C>G
ENST00000637381.2:n.3130C>G
ENST00000637387.1:c.702C>G	ENSP00000490598.1:p.Ser234Arg
ENST00000637815.2:c.702C>G	ENSP00000490344.1:p.Ser234Arg
ENST00000637915.1:c.702C>G	ENSP00000490471.1:p.Ser234Arg
ENST00000678991.1:c.*563C>G	ENSP00000503019.1:n.*563C>G
ENST00000236671.6:c.702C>G	ENSP00000236671.2:p.Ser234Arg
ENST00000367196.3:c.597C>G	ENSP00000356164.3:p.Ser199Arg
ENST00000427721.2:c.102C>G	ENSP00000415840.2:p.Ser34Arg
ENST00000433655.5:c.702C>G	ENSP00000404902.1:p.Ser234Arg
ENST00000438213.5:c.657C>G	ENSP00000415036.1:p.Ser219Arg
NM_001909.4:c.702C>G	NP_001900.1:p.Ser234Arg
NM_001909.5:c.702C>G MANE Select	NP_001900.1:p.Ser234Arg