Canonical Allele Identifier: CA379095973

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778626A>C (hg19) ; chr11:g.1757396A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757396A>C , CM000673.2:g.1757396A>C	GRCh38
NC_000011.9:g.1778626A>C , CM000673.1:g.1778626A>C	GRCh37
NC_000011.8:g.1735202A>C	NCBI36
NG_008655.1:g.11597T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.632T>G MANE Select	ENSP00000236671.2:p.Val211Gly
ENST00000367196.4:c.527T>G	ENSP00000356164.4:p.Val176Gly
ENST00000427721.3:c.57T>G
ENST00000429746.2:c.527T>G	ENSP00000402586.2:p.Val176Gly
ENST00000433655.6:c.632T>G	ENSP00000404902.1:p.Val211Gly
ENST00000438213.6:c.632T>G	ENSP00000415036.2:p.Val211Gly
ENST00000636397.1:c.632T>G	ENSP00000489910.1:p.Val211Gly
ENST00000636571.1:c.611T>G	ENSP00000490770.1:p.Val204Gly
ENST00000636615.1:c.632T>G	ENSP00000490014.1:p.Val211Gly
ENST00000636843.1:c.626T>G	ENSP00000490897.1:p.Val209Gly
ENST00000637158.1:n.230T>G
ENST00000637381.2:n.3060T>G
ENST00000637387.1:c.632T>G	ENSP00000490598.1:p.Val211Gly
ENST00000637815.2:c.632T>G	ENSP00000490344.1:p.Val211Gly
ENST00000637915.1:c.632T>G	ENSP00000490471.1:p.Val211Gly
ENST00000677300.1:n.1027T>G
ENST00000678991.1:c.*493T>G	ENSP00000503019.1:n.*493T>G
ENST00000236671.6:c.632T>G	ENSP00000236671.2:p.Val211Gly
ENST00000367196.3:c.527T>G	ENSP00000356164.3:p.Val176Gly
ENST00000427721.2:c.32T>G	ENSP00000415840.2:p.Val11Gly
ENST00000433655.5:c.632T>G	ENSP00000404902.1:p.Val211Gly
ENST00000438213.5:c.587T>G	ENSP00000415036.1:p.Val196Gly
NM_001909.4:c.632T>G	NP_001900.1:p.Val211Gly
NM_001909.5:c.632T>G MANE Select	NP_001900.1:p.Val211Gly