Canonical Allele Identifier: CA379093776

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775275C>G (hg19) ; chr11:g.1754045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754045C>G , CM000673.2:g.1754045C>G	GRCh38
NC_000011.9:g.1775275C>G , CM000673.1:g.1775275C>G	GRCh37
NC_000011.8:g.1731851C>G	NCBI36
NG_008655.1:g.14948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.921G>C MANE Select	ENSP00000236671.2:p.Glu307Asp
ENST00000367196.4:c.816G>C	ENSP00000356164.4:p.Glu272Asp
ENST00000427721.3:c.346G>C
ENST00000429746.2:c.816G>C	ENSP00000402586.2:p.Glu272Asp
ENST00000433655.6:c.*87G>C	ENSP00000404902.1:n.*87G>C
ENST00000438213.6:c.1038G>C	ENSP00000415036.2:p.Glu346Asp
ENST00000497544.3:n.537G>C
ENST00000636397.1:c.921G>C	ENSP00000489910.1:p.Glu307Asp
ENST00000636571.1:c.900G>C	ENSP00000490770.1:p.Glu300Asp
ENST00000636615.1:c.921G>C	ENSP00000490014.1:p.Glu307Asp
ENST00000636843.1:c.915G>C	ENSP00000490897.1:p.Glu305Asp
ENST00000637158.1:n.519G>C
ENST00000637381.2:n.3349G>C
ENST00000637387.1:c.921G>C	ENSP00000490598.1:p.Glu307Asp
ENST00000637815.2:c.903G>C	ENSP00000490344.1:p.Glu301Asp
ENST00000637915.1:c.921G>C	ENSP00000490471.1:p.Glu307Asp
ENST00000637937.1:n.229G>C
ENST00000678991.1:c.*782G>C	ENSP00000503019.1:n.*782G>C
ENST00000236671.6:c.921G>C	ENSP00000236671.2:p.Glu307Asp
ENST00000427721.2:c.321G>C	ENSP00000415840.2:p.Glu107Asp
ENST00000429746.1:c.252G>C	ENSP00000402586.1:p.Glu84Asp
ENST00000433655.5:c.*87G>C	ENSP00000404902.1:n.*87G>C
ENST00000438213.5:c.876G>C	ENSP00000415036.1:p.Glu292Asp
ENST00000497544.1:n.537G>C
NM_001909.4:c.921G>C	NP_001900.1:p.Glu307Asp
NM_001909.5:c.921G>C MANE Select	NP_001900.1:p.Glu307Asp