Canonical Allele Identifier: CA379093743

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775266C>A (hg19) ; chr11:g.1754036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754036C>A , CM000673.2:g.1754036C>A	GRCh38
NC_000011.9:g.1775266C>A , CM000673.1:g.1775266C>A	GRCh37
NC_000011.8:g.1731842C>A	NCBI36
NG_008655.1:g.14957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.930G>T MANE Select	ENSP00000236671.2:p.Glu310Asp
ENST00000367196.4:c.825G>T	ENSP00000356164.4:p.Glu275Asp
ENST00000427721.3:c.355G>T
ENST00000429746.2:c.825G>T	ENSP00000402586.2:p.Glu275Asp
ENST00000433655.6:c.*96G>T	ENSP00000404902.1:n.*96G>T
ENST00000438213.6:c.1047G>T	ENSP00000415036.2:p.Glu349Asp
ENST00000497544.3:n.546G>T
ENST00000636397.1:c.930G>T	ENSP00000489910.1:p.Glu310Asp
ENST00000636571.1:c.909G>T	ENSP00000490770.1:p.Glu303Asp
ENST00000636615.1:c.930G>T	ENSP00000490014.1:p.Glu310Asp
ENST00000636843.1:c.924G>T	ENSP00000490897.1:p.Glu308Asp
ENST00000637158.1:n.528G>T
ENST00000637381.2:n.3358G>T
ENST00000637387.1:c.930G>T	ENSP00000490598.1:p.Glu310Asp
ENST00000637815.2:c.912G>T	ENSP00000490344.1:p.Glu304Asp
ENST00000637915.1:c.930G>T	ENSP00000490471.1:p.Glu310Asp
ENST00000637937.1:n.238G>T
ENST00000678991.1:c.*791G>T	ENSP00000503019.1:n.*791G>T
ENST00000236671.6:c.930G>T	ENSP00000236671.2:p.Glu310Asp
ENST00000427721.2:c.330G>T	ENSP00000415840.2:p.Glu110Asp
ENST00000429746.1:c.261G>T	ENSP00000402586.1:p.Glu87Asp
ENST00000433655.5:c.*96G>T	ENSP00000404902.1:n.*96G>T
ENST00000438213.5:c.885G>T	ENSP00000415036.1:p.Glu295Asp
ENST00000497544.1:n.546G>T
NM_001909.4:c.930G>T	NP_001900.1:p.Glu310Asp
NM_001909.5:c.930G>T MANE Select	NP_001900.1:p.Glu310Asp