Canonical Allele Identifier: CA379092453

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753573-A-G
• MyVariant Identifiers: chr11:g.1774803A>G (hg19) ; chr11:g.1753573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753573A>G , CM000673.2:g.1753573A>G	GRCh38
NC_000011.9:g.1774803A>G , CM000673.1:g.1774803A>G	GRCh37
NC_000011.8:g.1731379A>G	NCBI36
NG_008655.1:g.15420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1169T>C MANE Select	ENSP00000236671.2:p.Ile390Thr
ENST00000367196.4:c.1064T>C	ENSP00000356164.4:p.Ile355Thr
ENST00000427721.3:c.594T>C
ENST00000429746.2:c.1064T>C	ENSP00000402586.2:p.Ile355Thr
ENST00000433655.6:c.*335T>C	ENSP00000404902.1:n.*335T>C
ENST00000438213.6:c.1286T>C	ENSP00000415036.2:p.Ile429Thr
ENST00000636397.1:c.1071+230T>C	ENSP00000489910.1:n.1071+230T>C
ENST00000636571.1:c.1148T>C	ENSP00000490770.1:p.Ile383Thr
ENST00000636579.1:c.72+230T>C	ENSP00000490489.1:n.72+230T>C
ENST00000636615.1:c.1071+230T>C	ENSP00000490014.1:n.1071+230T>C
ENST00000636843.1:c.1163T>C	ENSP00000490897.1:p.Ile388Thr
ENST00000637158.1:n.767T>C
ENST00000637381.2:n.3597T>C
ENST00000637387.1:c.1148T>C	ENSP00000490598.1:p.Ile383Thr
ENST00000637815.2:c.1151T>C	ENSP00000490344.1:p.Ile384Thr
ENST00000637915.1:c.1160T>C	ENSP00000490471.1:p.Ile387Thr
ENST00000637937.1:n.477T>C
ENST00000678991.1:c.*1030T>C	ENSP00000503019.1:n.*1030T>C
ENST00000236671.6:c.1169T>C	ENSP00000236671.2:p.Ile390Thr
ENST00000427721.2:c.471+230T>C	ENSP00000415840.2:n.471+230T>C
ENST00000429746.1:c.500T>C	ENSP00000402586.1:p.Ile167Thr
ENST00000433655.5:c.*335T>C	ENSP00000404902.1:n.*335T>C
NM_001909.4:c.1169T>C	NP_001900.1:p.Ile390Thr
NM_001909.5:c.1169T>C MANE Select	NP_001900.1:p.Ile390Thr