Canonical Allele Identifier: CA472140760

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753641-C-A
• MyVariant Identifiers: chr11:g.1774871C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753641C>A , CM000673.2:g.1753641C>A	GRCh38
NC_000011.9:g.1774871C>A , CM000673.1:g.1774871C>A	GRCh37
NC_000011.8:g.1731447C>A	NCBI36
NG_008655.1:g.15352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1101G>T MANE Select	ENSP00000236671.2:p.Leu367=
ENST00000367196.4:c.996G>T	ENSP00000356164.4:p.Leu332=
ENST00000427721.3:c.526G>T
ENST00000429746.2:c.996G>T	ENSP00000402586.2:p.Leu332=
ENST00000433655.6:c.*267G>T	ENSP00000404902.1:n.*267G>T
ENST00000438213.6:c.1218G>T	ENSP00000415036.2:p.Leu406=
ENST00000636397.1:c.1071+162G>T	ENSP00000489910.1:n.1071+162G>T
ENST00000636571.1:c.1080G>T	ENSP00000490770.1:p.Leu360=
ENST00000636579.1:c.72+162G>T	ENSP00000490489.1:n.72+162G>T
ENST00000636615.1:c.1071+162G>T	ENSP00000490014.1:n.1071+162G>T
ENST00000636843.1:c.1095G>T	ENSP00000490897.1:p.Leu365=
ENST00000637158.1:n.699G>T
ENST00000637381.2:n.3529G>T
ENST00000637387.1:c.1080G>T	ENSP00000490598.1:p.Leu360=
ENST00000637815.2:c.1083G>T	ENSP00000490344.1:p.Leu361=
ENST00000637915.1:c.1092G>T	ENSP00000490471.1:p.Leu364=
ENST00000637937.1:n.409G>T
ENST00000678991.1:c.*962G>T	ENSP00000503019.1:n.*962G>T
ENST00000236671.6:c.1101G>T	ENSP00000236671.2:p.Leu367=
ENST00000427721.2:c.471+162G>T	ENSP00000415840.2:n.471+162G>T
ENST00000429746.1:c.432G>T	ENSP00000402586.1:p.Leu144=
ENST00000433655.5:c.*267G>T	ENSP00000404902.1:n.*267G>T
NM_001909.4:c.1101G>T	NP_001900.1:p.Leu367=
NM_001909.5:c.1101G>T MANE Select	NP_001900.1:p.Leu367=