Canonical Allele Identifier: CA472140447

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775108C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753878C>G , CM000673.2:g.1753878C>G	GRCh38
NC_000011.9:g.1775108C>G , CM000673.1:g.1775108C>G	GRCh37
NC_000011.8:g.1731684C>G	NCBI36
NG_008655.1:g.15115G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.996G>C MANE Select	ENSP00000236671.2:p.Val332=
ENST00000367196.4:c.891G>C	ENSP00000356164.4:p.Val297=
ENST00000427721.3:c.421G>C
ENST00000429746.2:c.891G>C	ENSP00000402586.2:p.Val297=
ENST00000433655.6:c.*162G>C	ENSP00000404902.1:n.*162G>C
ENST00000438213.6:c.1113G>C	ENSP00000415036.2:p.Val371=
ENST00000497544.3:n.704G>C
ENST00000636397.1:c.996G>C	ENSP00000489910.1:p.Val332=
ENST00000636571.1:c.975G>C	ENSP00000490770.1:p.Val325=
ENST00000636615.1:c.996G>C	ENSP00000490014.1:p.Val332=
ENST00000636843.1:c.990G>C	ENSP00000490897.1:p.Val330=
ENST00000637158.1:n.594G>C
ENST00000637381.2:n.3424G>C
ENST00000637387.1:c.975G>C	ENSP00000490598.1:p.Val325=
ENST00000637815.2:c.978G>C	ENSP00000490344.1:p.Val326=
ENST00000637915.1:c.996G>C	ENSP00000490471.1:p.Val332=
ENST00000637937.1:n.304G>C
ENST00000678991.1:c.*857G>C	ENSP00000503019.1:n.*857G>C
ENST00000236671.6:c.996G>C	ENSP00000236671.2:p.Val332=
ENST00000427721.2:c.396G>C	ENSP00000415840.2:p.Val132=
ENST00000429746.1:c.327G>C	ENSP00000402586.1:p.Val109=
ENST00000433655.5:c.*162G>C	ENSP00000404902.1:n.*162G>C
ENST00000497544.1:n.704G>C
NM_001909.4:c.996G>C	NP_001900.1:p.Val332=
NM_001909.5:c.996G>C MANE Select	NP_001900.1:p.Val332=