Canonical Allele Identifier: CA379093650

Gene: CTSD

Linked Data

• dbSNP Id: rs1845763271
• gnomAD v3: 11-1754025-G-A
• gnomAD v4: 11-1754025-G-A
• MyVariant Identifiers: chr11:g.1775255G>A (hg19) ; chr11:g.1754025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754025G>A , CM000673.2:g.1754025G>A	GRCh38
NC_000011.9:g.1775255G>A , CM000673.1:g.1775255G>A	GRCh37
NC_000011.8:g.1731831G>A	NCBI36
NG_008655.1:g.14968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.941C>T MANE Select	ENSP00000236671.2:p.Ala314Val
ENST00000367196.4:c.836C>T	ENSP00000356164.4:p.Ala279Val
ENST00000427721.3:c.366C>T
ENST00000429746.2:c.836C>T	ENSP00000402586.2:p.Ala279Val
ENST00000433655.6:c.*107C>T	ENSP00000404902.1:n.*107C>T
ENST00000438213.6:c.1058C>T	ENSP00000415036.2:p.Ala353Val
ENST00000497544.3:n.557C>T
ENST00000636397.1:c.941C>T	ENSP00000489910.1:p.Ala314Val
ENST00000636571.1:c.920C>T	ENSP00000490770.1:p.Ala307Val
ENST00000636615.1:c.941C>T	ENSP00000490014.1:p.Ala314Val
ENST00000636843.1:c.935C>T	ENSP00000490897.1:p.Ala312Val
ENST00000637158.1:n.539C>T
ENST00000637381.2:n.3369C>T
ENST00000637387.1:c.941C>T	ENSP00000490598.1:p.Ala314Val
ENST00000637815.2:c.923C>T	ENSP00000490344.1:p.Ala308Val
ENST00000637915.1:c.941C>T	ENSP00000490471.1:p.Ala314Val
ENST00000637937.1:n.249C>T
ENST00000678991.1:c.*802C>T	ENSP00000503019.1:n.*802C>T
ENST00000236671.6:c.941C>T	ENSP00000236671.2:p.Ala314Val
ENST00000427721.2:c.341C>T	ENSP00000415840.2:p.Ala114Val
ENST00000429746.1:c.272C>T	ENSP00000402586.1:p.Ala91Val
ENST00000433655.5:c.*107C>T	ENSP00000404902.1:n.*107C>T
ENST00000438213.5:c.896C>T	ENSP00000415036.1:p.Ala299Val
ENST00000497544.1:n.557C>T
NM_001909.4:c.941C>T	NP_001900.1:p.Ala314Val
NM_001909.5:c.941C>T MANE Select	NP_001900.1:p.Ala314Val