Canonical Allele Identifier: CA472140744

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775242C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754012C>G , CM000673.2:g.1754012C>G	GRCh38
NC_000011.9:g.1775242C>G , CM000673.1:g.1775242C>G	GRCh37
NC_000011.8:g.1731818C>G	NCBI36
NG_008655.1:g.14981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.954G>C MANE Select	ENSP00000236671.2:p.Val318=
ENST00000367196.4:c.849G>C	ENSP00000356164.4:p.Val283=
ENST00000427721.3:c.379G>C
ENST00000429746.2:c.849G>C	ENSP00000402586.2:p.Val283=
ENST00000433655.6:c.*120G>C	ENSP00000404902.1:n.*120G>C
ENST00000438213.6:c.1071G>C	ENSP00000415036.2:p.Val357=
ENST00000497544.3:n.570G>C
ENST00000636397.1:c.954G>C	ENSP00000489910.1:p.Val318=
ENST00000636571.1:c.933G>C	ENSP00000490770.1:p.Val311=
ENST00000636615.1:c.954G>C	ENSP00000490014.1:p.Val318=
ENST00000636843.1:c.948G>C	ENSP00000490897.1:p.Val316=
ENST00000637158.1:n.552G>C
ENST00000637381.2:n.3382G>C
ENST00000637387.1:c.954G>C	ENSP00000490598.1:p.Val318=
ENST00000637815.2:c.936G>C	ENSP00000490344.1:p.Val312=
ENST00000637915.1:c.954G>C	ENSP00000490471.1:p.Val318=
ENST00000637937.1:n.262G>C
ENST00000678991.1:c.*815G>C	ENSP00000503019.1:n.*815G>C
ENST00000236671.6:c.954G>C	ENSP00000236671.2:p.Val318=
ENST00000427721.2:c.354G>C	ENSP00000415840.2:p.Val118=
ENST00000429746.1:c.285G>C	ENSP00000402586.1:p.Val95=
ENST00000433655.5:c.*120G>C	ENSP00000404902.1:n.*120G>C
ENST00000497544.1:n.570G>C
NM_001909.4:c.954G>C	NP_001900.1:p.Val318=
NM_001909.5:c.954G>C MANE Select	NP_001900.1:p.Val318=