Canonical Allele Identifier: CA379095342

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754980-G-C
• MyVariant Identifiers: chr11:g.1776210G>C (hg19) ; chr11:g.1754980G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754980G>C , CM000673.2:g.1754980G>C	GRCh38
NC_000011.9:g.1776210G>C , CM000673.1:g.1776210G>C	GRCh37
NC_000011.8:g.1732786G>C	NCBI36
NG_008655.1:g.14013C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.753C>G MANE Select	ENSP00000236671.2:p.Asp251Glu
ENST00000367196.4:c.648C>G	ENSP00000356164.4:p.Asp216Glu
ENST00000427721.3:c.178C>G
ENST00000429746.2:c.648C>G	ENSP00000402586.2:p.Asp216Glu
ENST00000433655.6:c.753C>G	ENSP00000404902.1:p.Asp251Glu
ENST00000438213.6:c.753C>G	ENSP00000415036.2:p.Asp251Glu
ENST00000497544.3:n.369C>G
ENST00000636397.1:c.753C>G	ENSP00000489910.1:p.Asp251Glu
ENST00000636571.1:c.732C>G	ENSP00000490770.1:p.Asp244Glu
ENST00000636615.1:c.753C>G	ENSP00000490014.1:p.Asp251Glu
ENST00000636843.1:c.747C>G	ENSP00000490897.1:p.Asp249Glu
ENST00000637158.1:n.351C>G
ENST00000637381.2:n.3181C>G
ENST00000637387.1:c.753C>G	ENSP00000490598.1:p.Asp251Glu
ENST00000637815.2:c.753C>G	ENSP00000490344.1:p.Asp251Glu
ENST00000637915.1:c.753C>G	ENSP00000490471.1:p.Asp251Glu
ENST00000637937.1:n.61C>G
ENST00000678991.1:c.*614C>G	ENSP00000503019.1:n.*614C>G
ENST00000236671.6:c.753C>G	ENSP00000236671.2:p.Asp251Glu
ENST00000427721.2:c.153C>G	ENSP00000415840.2:p.Asp51Glu
ENST00000433655.5:c.753C>G	ENSP00000404902.1:p.Asp251Glu
ENST00000438213.5:c.708C>G	ENSP00000415036.1:p.Asp236Glu
ENST00000497544.1:n.369C>G
NM_001909.4:c.753C>G	NP_001900.1:p.Asp251Glu
NM_001909.5:c.753C>G MANE Select	NP_001900.1:p.Asp251Glu