Canonical Allele Identifier: CA379093543

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775234A>G (hg19) ; chr11:g.1754004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754004A>G , CM000673.2:g.1754004A>G	GRCh38
NC_000011.9:g.1775234A>G , CM000673.1:g.1775234A>G	GRCh37
NC_000011.8:g.1731810A>G	NCBI36
NG_008655.1:g.14989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.962T>C MANE Select	ENSP00000236671.2:p.Ile321Thr
ENST00000367196.4:c.857T>C	ENSP00000356164.4:p.Ile286Thr
ENST00000427721.3:c.387T>C
ENST00000429746.2:c.857T>C	ENSP00000402586.2:p.Ile286Thr
ENST00000433655.6:c.*128T>C	ENSP00000404902.1:n.*128T>C
ENST00000438213.6:c.1079T>C	ENSP00000415036.2:p.Ile360Thr
ENST00000497544.3:n.578T>C
ENST00000636397.1:c.962T>C	ENSP00000489910.1:p.Ile321Thr
ENST00000636571.1:c.941T>C	ENSP00000490770.1:p.Ile314Thr
ENST00000636615.1:c.962T>C	ENSP00000490014.1:p.Ile321Thr
ENST00000636843.1:c.956T>C	ENSP00000490897.1:p.Ile319Thr
ENST00000637158.1:n.560T>C
ENST00000637381.2:n.3390T>C
ENST00000637387.1:c.962T>C	ENSP00000490598.1:p.Ile321Thr
ENST00000637815.2:c.944T>C	ENSP00000490344.1:p.Ile315Thr
ENST00000637915.1:c.962T>C	ENSP00000490471.1:p.Ile321Thr
ENST00000637937.1:n.270T>C
ENST00000678991.1:c.*823T>C	ENSP00000503019.1:n.*823T>C
ENST00000236671.6:c.962T>C	ENSP00000236671.2:p.Ile321Thr
ENST00000427721.2:c.362T>C	ENSP00000415840.2:p.Ile121Thr
ENST00000429746.1:c.293T>C	ENSP00000402586.1:p.Ile98Thr
ENST00000433655.5:c.*128T>C	ENSP00000404902.1:n.*128T>C
ENST00000497544.1:n.578T>C
NM_001909.4:c.962T>C	NP_001900.1:p.Ile321Thr
NM_001909.5:c.962T>C MANE Select	NP_001900.1:p.Ile321Thr