Canonical Allele Identifier: CA379095989

Gene: CTSD

Linked Data

• dbSNP Id: rs1261670405
• gnomAD v2: 11-1778632-T-C
• gnomAD v3: 11-1757402-T-C
• gnomAD v4: 11-1757402-T-C
• MyVariant Identifiers: chr11:g.1778632T>C (hg19) ; chr11:g.1757402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757402T>C , CM000673.2:g.1757402T>C	GRCh38
NC_000011.9:g.1778632T>C , CM000673.1:g.1778632T>C	GRCh37
NC_000011.8:g.1735208T>C	NCBI36
NG_008655.1:g.11591A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.626A>G MANE Select	ENSP00000236671.2:p.Asn209Ser
ENST00000367196.4:c.521A>G	ENSP00000356164.4:p.Asn174Ser
ENST00000427721.3:c.51A>G
ENST00000429746.2:c.521A>G	ENSP00000402586.2:p.Asn174Ser
ENST00000433655.6:c.626A>G	ENSP00000404902.1:p.Asn209Ser
ENST00000438213.6:c.626A>G	ENSP00000415036.2:p.Asn209Ser
ENST00000636397.1:c.626A>G	ENSP00000489910.1:p.Asn209Ser
ENST00000636571.1:c.605A>G	ENSP00000490770.1:p.Asn202Ser
ENST00000636615.1:c.626A>G	ENSP00000490014.1:p.Asn209Ser
ENST00000636843.1:c.620A>G	ENSP00000490897.1:p.Asn207Ser
ENST00000637158.1:n.224A>G
ENST00000637381.2:n.3054A>G
ENST00000637387.1:c.626A>G	ENSP00000490598.1:p.Asn209Ser
ENST00000637815.2:c.626A>G	ENSP00000490344.1:p.Asn209Ser
ENST00000637915.1:c.626A>G	ENSP00000490471.1:p.Asn209Ser
ENST00000677300.1:n.1021A>G
ENST00000678991.1:c.*487A>G	ENSP00000503019.1:n.*487A>G
ENST00000236671.6:c.626A>G	ENSP00000236671.2:p.Asn209Ser
ENST00000367196.3:c.521A>G	ENSP00000356164.3:p.Asn174Ser
ENST00000427721.2:c.26A>G	ENSP00000415840.2:p.Asn9Ser
ENST00000433655.5:c.626A>G	ENSP00000404902.1:p.Asn209Ser
ENST00000438213.5:c.581A>G	ENSP00000415036.1:p.Asn194Ser
NM_001909.4:c.626A>G	NP_001900.1:p.Asn209Ser
NM_001909.5:c.626A>G MANE Select	NP_001900.1:p.Asn209Ser