Canonical Allele Identifier: CA379093144

Gene: CTSD

Linked Data

• dbSNP Id: rs1346807167
• gnomAD v2: 11-1775067-C-G
• gnomAD v3: 11-1753837-C-G
• gnomAD v4: 11-1753837-C-G
• MyVariant Identifiers: chr11:g.1775067C>G (hg19) ; chr11:g.1753837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753837C>G , CM000673.2:g.1753837C>G	GRCh38
NC_000011.9:g.1775067C>G , CM000673.1:g.1775067C>G	GRCh37
NC_000011.8:g.1731643C>G	NCBI36
NG_008655.1:g.15156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1037G>C MANE Select	ENSP00000236671.2:p.Gly346Ala
ENST00000367196.4:c.932G>C	ENSP00000356164.4:p.Gly311Ala
ENST00000427721.3:c.462G>C
ENST00000429746.2:c.932G>C	ENSP00000402586.2:p.Gly311Ala
ENST00000433655.6:c.*203G>C	ENSP00000404902.1:n.*203G>C
ENST00000438213.6:c.1154G>C	ENSP00000415036.2:p.Gly385Ala
ENST00000497544.3:n.745G>C
ENST00000636397.1:c.1037G>C	ENSP00000489910.1:p.Gly346Ala
ENST00000636571.1:c.1016G>C	ENSP00000490770.1:p.Gly339Ala
ENST00000636579.1:c.38G>C	ENSP00000490489.1:p.Gly13Ala
ENST00000636615.1:c.1037G>C	ENSP00000490014.1:p.Gly346Ala
ENST00000636843.1:c.1031G>C	ENSP00000490897.1:p.Gly344Ala
ENST00000637158.1:n.635G>C
ENST00000637381.2:n.3465G>C
ENST00000637387.1:c.1016G>C	ENSP00000490598.1:p.Gly339Ala
ENST00000637815.2:c.1019G>C	ENSP00000490344.1:p.Gly340Ala
ENST00000637915.1:c.1037G>C	ENSP00000490471.1:p.Gly346Ala
ENST00000637937.1:n.345G>C
ENST00000678991.1:c.*898G>C	ENSP00000503019.1:n.*898G>C
ENST00000236671.6:c.1037G>C	ENSP00000236671.2:p.Gly346Ala
ENST00000427721.2:c.437G>C	ENSP00000415840.2:p.Gly146Ala
ENST00000429746.1:c.368G>C	ENSP00000402586.1:p.Gly123Ala
ENST00000433655.5:c.*203G>C	ENSP00000404902.1:n.*203G>C
ENST00000497544.1:n.745G>C
NM_001909.4:c.1037G>C	NP_001900.1:p.Gly346Ala
NM_001909.5:c.1037G>C MANE Select	NP_001900.1:p.Gly346Ala