Canonical Allele Identifier: CA379093273

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775095C>G (hg19) ; chr11:g.1753865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753865C>G , CM000673.2:g.1753865C>G	GRCh38
NC_000011.9:g.1775095C>G , CM000673.1:g.1775095C>G	GRCh37
NC_000011.8:g.1731671C>G	NCBI36
NG_008655.1:g.15128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1009G>C MANE Select	ENSP00000236671.2:p.Ala337Pro
ENST00000367196.4:c.904G>C	ENSP00000356164.4:p.Ala302Pro
ENST00000427721.3:c.434G>C
ENST00000429746.2:c.904G>C	ENSP00000402586.2:p.Ala302Pro
ENST00000433655.6:c.*175G>C	ENSP00000404902.1:n.*175G>C
ENST00000438213.6:c.1126G>C	ENSP00000415036.2:p.Ala376Pro
ENST00000497544.3:n.717G>C
ENST00000636397.1:c.1009G>C	ENSP00000489910.1:p.Ala337Pro
ENST00000636571.1:c.988G>C	ENSP00000490770.1:p.Ala330Pro
ENST00000636579.1:c.10G>C	ENSP00000490489.1:p.Ala4Pro
ENST00000636615.1:c.1009G>C	ENSP00000490014.1:p.Ala337Pro
ENST00000636843.1:c.1003G>C	ENSP00000490897.1:p.Ala335Pro
ENST00000637158.1:n.607G>C
ENST00000637381.2:n.3437G>C
ENST00000637387.1:c.988G>C	ENSP00000490598.1:p.Ala330Pro
ENST00000637815.2:c.991G>C	ENSP00000490344.1:p.Ala331Pro
ENST00000637915.1:c.1009G>C	ENSP00000490471.1:p.Ala337Pro
ENST00000637937.1:n.317G>C
ENST00000678991.1:c.*870G>C	ENSP00000503019.1:n.*870G>C
ENST00000236671.6:c.1009G>C	ENSP00000236671.2:p.Ala337Pro
ENST00000427721.2:c.409G>C	ENSP00000415840.2:p.Ala137Pro
ENST00000429746.1:c.340G>C	ENSP00000402586.1:p.Ala114Pro
ENST00000433655.5:c.*175G>C	ENSP00000404902.1:n.*175G>C
ENST00000497544.1:n.717G>C
NM_001909.4:c.1009G>C	NP_001900.1:p.Ala337Pro
NM_001909.5:c.1009G>C MANE Select	NP_001900.1:p.Ala337Pro