Canonical Allele Identifier: CA379092650

Gene: CTSD

Linked Data

• dbSNP Id: rs1462553673
• gnomAD v2: 11-1774854-A-G
• MyVariant Identifiers: chr11:g.1774854A>G (hg19) ; chr11:g.1753624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753624A>G , CM000673.2:g.1753624A>G	GRCh38
NC_000011.9:g.1774854A>G , CM000673.1:g.1774854A>G	GRCh37
NC_000011.8:g.1731430A>G	NCBI36
NG_008655.1:g.15369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1118T>C MANE Select	ENSP00000236671.2:p.Met373Thr
ENST00000367196.4:c.1013T>C	ENSP00000356164.4:p.Met338Thr
ENST00000427721.3:c.543T>C
ENST00000429746.2:c.1013T>C	ENSP00000402586.2:p.Met338Thr
ENST00000433655.6:c.*284T>C	ENSP00000404902.1:n.*284T>C
ENST00000438213.6:c.1235T>C	ENSP00000415036.2:p.Met412Thr
ENST00000636397.1:c.1071+179T>C	ENSP00000489910.1:n.1071+179T>C
ENST00000636571.1:c.1097T>C	ENSP00000490770.1:p.Met366Thr
ENST00000636579.1:c.72+179T>C	ENSP00000490489.1:n.72+179T>C
ENST00000636615.1:c.1071+179T>C	ENSP00000490014.1:n.1071+179T>C
ENST00000636843.1:c.1112T>C	ENSP00000490897.1:p.Met371Thr
ENST00000637158.1:n.716T>C
ENST00000637381.2:n.3546T>C
ENST00000637387.1:c.1097T>C	ENSP00000490598.1:p.Met366Thr
ENST00000637815.2:c.1100T>C	ENSP00000490344.1:p.Met367Thr
ENST00000637915.1:c.1109T>C	ENSP00000490471.1:p.Met370Thr
ENST00000637937.1:n.426T>C
ENST00000678991.1:c.*979T>C	ENSP00000503019.1:n.*979T>C
ENST00000236671.6:c.1118T>C	ENSP00000236671.2:p.Met373Thr
ENST00000427721.2:c.471+179T>C	ENSP00000415840.2:n.471+179T>C
ENST00000429746.1:c.449T>C	ENSP00000402586.1:p.Met150Thr
ENST00000433655.5:c.*284T>C	ENSP00000404902.1:n.*284T>C
NM_001909.4:c.1118T>C	NP_001900.1:p.Met373Thr
NM_001909.5:c.1118T>C MANE Select	NP_001900.1:p.Met373Thr