Canonical Allele Identifier: CA5813867

Gene: CTSD

Linked Data

• dbSNP Id: rs772742148
• ExAC: 11:1774742 G / C
• gnomAD v2: 11-1774742-G-C
• gnomAD v3: 11-1753512-G-C
• gnomAD v4: 11-1753512-G-C
• MyVariant Identifiers: chr11:g.1774742G>C (hg19) ; chr11:g.1753512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753512G>C , CM000673.2:g.1753512G>C	GRCh38
NC_000011.9:g.1774742G>C , CM000673.1:g.1774742G>C	GRCh37
NC_000011.8:g.1731318G>C	NCBI36
NG_008655.1:g.15481C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1230C>G MANE Select	ENSP00000236671.2:p.Ala410=
ENST00000367196.4:c.1125C>G	ENSP00000356164.4:p.Ala375=
ENST00000427721.3:c.634+21C>G
ENST00000429746.2:c.1125C>G	ENSP00000402586.2:p.Ala375=
ENST00000433655.6:c.*396C>G	ENSP00000404902.1:n.*396C>G
ENST00000438213.6:c.1347C>G	ENSP00000415036.2:p.Ala449=
ENST00000636397.1:c.1071+291C>G	ENSP00000489910.1:n.1071+291C>G
ENST00000636571.1:c.1209C>G	ENSP00000490770.1:p.Ala403=
ENST00000636579.1:c.72+291C>G	ENSP00000490489.1:n.72+291C>G
ENST00000636615.1:c.1071+291C>G	ENSP00000490014.1:n.1071+291C>G
ENST00000636843.1:c.1224C>G	ENSP00000490897.1:p.Ala408=
ENST00000637158.1:n.828C>G
ENST00000637381.2:n.3658C>G
ENST00000637387.1:c.1209C>G	ENSP00000490598.1:p.Ala403=
ENST00000637815.2:c.1212C>G	ENSP00000490344.1:p.Ala404=
ENST00000637915.1:c.1221C>G	ENSP00000490471.1:p.Ala407=
ENST00000637937.1:n.538C>G
ENST00000678991.1:c.*1091C>G	ENSP00000503019.1:n.*1091C>G
ENST00000236671.6:c.1230C>G	ENSP00000236671.2:p.Ala410=
ENST00000427721.2:c.471+291C>G	ENSP00000415840.2:n.471+291C>G
ENST00000429746.1:c.561C>G	ENSP00000402586.1:p.Ala187=
ENST00000433655.5:c.*396C>G	ENSP00000404902.1:n.*396C>G
NM_001909.4:c.1230C>G	NP_001900.1:p.Ala410=
NM_001909.5:c.1230C>G MANE Select	NP_001900.1:p.Ala410=