Canonical Allele Identifier: CA379092777

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753661-C-G
• MyVariant Identifiers: chr11:g.1774891C>G (hg19) ; chr11:g.1753661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753661C>G , CM000673.2:g.1753661C>G	GRCh38
NC_000011.9:g.1774891C>G , CM000673.1:g.1774891C>G	GRCh37
NC_000011.8:g.1731467C>G	NCBI36
NG_008655.1:g.15332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1081G>C MANE Select	ENSP00000236671.2:p.Ala361Pro
ENST00000367196.4:c.976G>C	ENSP00000356164.4:p.Ala326Pro
ENST00000427721.3:c.506G>C
ENST00000429746.2:c.976G>C	ENSP00000402586.2:p.Ala326Pro
ENST00000433655.6:c.*247G>C	ENSP00000404902.1:n.*247G>C
ENST00000438213.6:c.1198G>C	ENSP00000415036.2:p.Ala400Pro
ENST00000497544.3:n.789G>C
ENST00000636397.1:c.1071+142G>C	ENSP00000489910.1:n.1071+142G>C
ENST00000636571.1:c.1060G>C	ENSP00000490770.1:p.Ala354Pro
ENST00000636579.1:c.72+142G>C	ENSP00000490489.1:n.72+142G>C
ENST00000636615.1:c.1071+142G>C	ENSP00000490014.1:n.1071+142G>C
ENST00000636843.1:c.1075G>C	ENSP00000490897.1:p.Ala359Pro
ENST00000637158.1:n.679G>C
ENST00000637381.2:n.3509G>C
ENST00000637387.1:c.1060G>C	ENSP00000490598.1:p.Ala354Pro
ENST00000637815.2:c.1063G>C	ENSP00000490344.1:p.Ala355Pro
ENST00000637915.1:c.1072G>C	ENSP00000490471.1:p.Ala358Pro
ENST00000637937.1:n.389G>C
ENST00000678991.1:c.*942G>C	ENSP00000503019.1:n.*942G>C
ENST00000236671.6:c.1081G>C	ENSP00000236671.2:p.Ala361Pro
ENST00000427721.2:c.471+142G>C	ENSP00000415840.2:n.471+142G>C
ENST00000429746.1:c.412G>C	ENSP00000402586.1:p.Ala138Pro
ENST00000433655.5:c.*247G>C	ENSP00000404902.1:n.*247G>C
NM_001909.4:c.1081G>C	NP_001900.1:p.Ala361Pro
NM_001909.5:c.1081G>C MANE Select	NP_001900.1:p.Ala361Pro