Canonical Allele Identifier: CA379092570

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753604-C-A
• MyVariant Identifiers: chr11:g.1774834C>A (hg19) ; chr11:g.1753604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753604C>A , CM000673.2:g.1753604C>A	GRCh38
NC_000011.9:g.1774834C>A , CM000673.1:g.1774834C>A	GRCh37
NC_000011.8:g.1731410C>A	NCBI36
NG_008655.1:g.15389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1138G>T MANE Select	ENSP00000236671.2:p.Gly380Trp
ENST00000367196.4:c.1033G>T	ENSP00000356164.4:p.Gly345Trp
ENST00000427721.3:c.563G>T
ENST00000429746.2:c.1033G>T	ENSP00000402586.2:p.Gly345Trp
ENST00000433655.6:c.*304G>T	ENSP00000404902.1:n.*304G>T
ENST00000438213.6:c.1255G>T	ENSP00000415036.2:p.Gly419Trp
ENST00000636397.1:c.1071+199G>T	ENSP00000489910.1:n.1071+199G>T
ENST00000636571.1:c.1117G>T	ENSP00000490770.1:p.Gly373Trp
ENST00000636579.1:c.72+199G>T	ENSP00000490489.1:n.72+199G>T
ENST00000636615.1:c.1071+199G>T	ENSP00000490014.1:n.1071+199G>T
ENST00000636843.1:c.1132G>T	ENSP00000490897.1:p.Gly378Trp
ENST00000637158.1:n.736G>T
ENST00000637381.2:n.3566G>T
ENST00000637387.1:c.1117G>T	ENSP00000490598.1:p.Gly373Trp
ENST00000637815.2:c.1120G>T	ENSP00000490344.1:p.Gly374Trp
ENST00000637915.1:c.1129G>T	ENSP00000490471.1:p.Gly377Trp
ENST00000637937.1:n.446G>T
ENST00000678991.1:c.*999G>T	ENSP00000503019.1:n.*999G>T
ENST00000236671.6:c.1138G>T	ENSP00000236671.2:p.Gly380Trp
ENST00000427721.2:c.471+199G>T	ENSP00000415840.2:n.471+199G>T
ENST00000429746.1:c.469G>T	ENSP00000402586.1:p.Gly157Trp
ENST00000433655.5:c.*304G>T	ENSP00000404902.1:n.*304G>T
NM_001909.4:c.1138G>T	NP_001900.1:p.Gly380Trp
NM_001909.5:c.1138G>T MANE Select	NP_001900.1:p.Gly380Trp