Canonical Allele Identifier: CA379098514

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1780844A>G (hg19) ; chr11:g.1759614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759614A>G , CM000673.2:g.1759614A>G	GRCh38
NC_000011.9:g.1780844A>G , CM000673.1:g.1780844A>G	GRCh37
NC_000011.8:g.1737420A>G	NCBI36
NG_008655.1:g.9379T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.254T>C MANE Select	ENSP00000236671.2:p.Ile85Thr
ENST00000367196.4:c.149T>C	ENSP00000356164.4:p.Ile50Thr
ENST00000429746.2:c.149T>C	ENSP00000402586.2:p.Ile50Thr
ENST00000433655.6:c.254T>C	ENSP00000404902.1:p.Ile85Thr
ENST00000438213.6:c.254T>C	ENSP00000415036.2:p.Ile85Thr
ENST00000636397.1:c.254T>C	ENSP00000489910.1:p.Ile85Thr
ENST00000636571.1:c.233T>C	ENSP00000490770.1:p.Ile78Thr
ENST00000636615.1:c.254T>C	ENSP00000490014.1:p.Ile85Thr
ENST00000636843.1:c.248T>C	ENSP00000490897.1:p.Ile83Thr
ENST00000637381.2:n.2682T>C
ENST00000637387.1:c.254T>C	ENSP00000490598.1:p.Ile85Thr
ENST00000637815.2:c.254T>C	ENSP00000490344.1:p.Ile85Thr
ENST00000637915.1:c.254T>C	ENSP00000490471.1:p.Ile85Thr
ENST00000677300.1:n.649T>C
ENST00000678991.1:c.*115T>C	ENSP00000503019.1:n.*115T>C
ENST00000236671.6:c.254T>C	ENSP00000236671.2:p.Ile85Thr
ENST00000367196.3:c.149T>C	ENSP00000356164.3:p.Ile50Thr
ENST00000433655.5:c.254T>C	ENSP00000404902.1:p.Ile85Thr
ENST00000438213.5:c.209T>C	ENSP00000415036.1:p.Ile70Thr
NM_001909.4:c.254T>C	NP_001900.1:p.Ile85Thr
NM_001909.5:c.254T>C MANE Select	NP_001900.1:p.Ile85Thr