Canonical Allele Identifier: CA379093611

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775247C>G (hg19) ; chr11:g.1754017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754017C>G , CM000673.2:g.1754017C>G	GRCh38
NC_000011.9:g.1775247C>G , CM000673.1:g.1775247C>G	GRCh37
NC_000011.8:g.1731823C>G	NCBI36
NG_008655.1:g.14976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.949G>C MANE Select	ENSP00000236671.2:p.Ala317Pro
ENST00000367196.4:c.844G>C	ENSP00000356164.4:p.Ala282Pro
ENST00000427721.3:c.374G>C
ENST00000429746.2:c.844G>C	ENSP00000402586.2:p.Ala282Pro
ENST00000433655.6:c.*115G>C	ENSP00000404902.1:n.*115G>C
ENST00000438213.6:c.1066G>C	ENSP00000415036.2:p.Ala356Pro
ENST00000497544.3:n.565G>C
ENST00000636397.1:c.949G>C	ENSP00000489910.1:p.Ala317Pro
ENST00000636571.1:c.928G>C	ENSP00000490770.1:p.Ala310Pro
ENST00000636615.1:c.949G>C	ENSP00000490014.1:p.Ala317Pro
ENST00000636843.1:c.943G>C	ENSP00000490897.1:p.Ala315Pro
ENST00000637158.1:n.547G>C
ENST00000637381.2:n.3377G>C
ENST00000637387.1:c.949G>C	ENSP00000490598.1:p.Ala317Pro
ENST00000637815.2:c.931G>C	ENSP00000490344.1:p.Ala311Pro
ENST00000637915.1:c.949G>C	ENSP00000490471.1:p.Ala317Pro
ENST00000637937.1:n.257G>C
ENST00000678991.1:c.*810G>C	ENSP00000503019.1:n.*810G>C
ENST00000236671.6:c.949G>C	ENSP00000236671.2:p.Ala317Pro
ENST00000427721.2:c.349G>C	ENSP00000415840.2:p.Ala117Pro
ENST00000429746.1:c.280G>C	ENSP00000402586.1:p.Ala94Pro
ENST00000433655.5:c.*115G>C	ENSP00000404902.1:n.*115G>C
ENST00000497544.1:n.565G>C
NM_001909.4:c.949G>C	NP_001900.1:p.Ala317Pro
NM_001909.5:c.949G>C MANE Select	NP_001900.1:p.Ala317Pro