Canonical Allele Identifier: CA472140235

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775066G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753836G>C , CM000673.2:g.1753836G>C	GRCh38
NC_000011.9:g.1775066G>C , CM000673.1:g.1775066G>C	GRCh37
NC_000011.8:g.1731642G>C	NCBI36
NG_008655.1:g.15157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1038C>G MANE Select	ENSP00000236671.2:p.Gly346=
ENST00000367196.4:c.933C>G	ENSP00000356164.4:p.Gly311=
ENST00000427721.3:c.463C>G
ENST00000429746.2:c.933C>G	ENSP00000402586.2:p.Gly311=
ENST00000433655.6:c.*204C>G	ENSP00000404902.1:n.*204C>G
ENST00000438213.6:c.1155C>G	ENSP00000415036.2:p.Gly385=
ENST00000497544.3:n.746C>G
ENST00000636397.1:c.1038C>G	ENSP00000489910.1:p.Gly346=
ENST00000636571.1:c.1017C>G	ENSP00000490770.1:p.Gly339=
ENST00000636579.1:c.39C>G	ENSP00000490489.1:p.Gly13=
ENST00000636615.1:c.1038C>G	ENSP00000490014.1:p.Gly346=
ENST00000636843.1:c.1032C>G	ENSP00000490897.1:p.Gly344=
ENST00000637158.1:n.636C>G
ENST00000637381.2:n.3466C>G
ENST00000637387.1:c.1017C>G	ENSP00000490598.1:p.Gly339=
ENST00000637815.2:c.1020C>G	ENSP00000490344.1:p.Gly340=
ENST00000637915.1:c.1038C>G	ENSP00000490471.1:p.Gly346=
ENST00000637937.1:n.346C>G
ENST00000678991.1:c.*899C>G	ENSP00000503019.1:n.*899C>G
ENST00000236671.6:c.1038C>G	ENSP00000236671.2:p.Gly346=
ENST00000427721.2:c.438C>G	ENSP00000415840.2:p.Gly146=
ENST00000429746.1:c.369C>G	ENSP00000402586.1:p.Gly123=
ENST00000433655.5:c.*204C>G	ENSP00000404902.1:n.*204C>G
ENST00000497544.1:n.746C>G
NM_001909.4:c.1038C>G	NP_001900.1:p.Gly346=
NM_001909.5:c.1038C>G MANE Select	NP_001900.1:p.Gly346=