Canonical Allele Identifier: CA472140331

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753856-G-A
• MyVariant Identifiers: chr11:g.1775086G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753856G>A , CM000673.2:g.1753856G>A	GRCh38
NC_000011.9:g.1775086G>A , CM000673.1:g.1775086G>A	GRCh37
NC_000011.8:g.1731662G>A	NCBI36
NG_008655.1:g.15137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1018C>T MANE Select	ENSP00000236671.2:p.Leu340=
ENST00000367196.4:c.913C>T	ENSP00000356164.4:p.Leu305=
ENST00000427721.3:c.443C>T
ENST00000429746.2:c.913C>T	ENSP00000402586.2:p.Leu305=
ENST00000433655.6:c.*184C>T	ENSP00000404902.1:n.*184C>T
ENST00000438213.6:c.1135C>T	ENSP00000415036.2:p.Leu379=
ENST00000497544.3:n.726C>T
ENST00000636397.1:c.1018C>T	ENSP00000489910.1:p.Leu340=
ENST00000636571.1:c.997C>T	ENSP00000490770.1:p.Leu333=
ENST00000636579.1:c.19C>T	ENSP00000490489.1:p.Leu7=
ENST00000636615.1:c.1018C>T	ENSP00000490014.1:p.Leu340=
ENST00000636843.1:c.1012C>T	ENSP00000490897.1:p.Leu338=
ENST00000637158.1:n.616C>T
ENST00000637381.2:n.3446C>T
ENST00000637387.1:c.997C>T	ENSP00000490598.1:p.Leu333=
ENST00000637815.2:c.1000C>T	ENSP00000490344.1:p.Leu334=
ENST00000637915.1:c.1018C>T	ENSP00000490471.1:p.Leu340=
ENST00000637937.1:n.326C>T
ENST00000678991.1:c.*879C>T	ENSP00000503019.1:n.*879C>T
ENST00000236671.6:c.1018C>T	ENSP00000236671.2:p.Leu340=
ENST00000427721.2:c.418C>T	ENSP00000415840.2:p.Leu140=
ENST00000429746.1:c.349C>T	ENSP00000402586.1:p.Leu117=
ENST00000433655.5:c.*184C>T	ENSP00000404902.1:n.*184C>T
ENST00000497544.1:n.726C>T
NM_001909.4:c.1018C>T	NP_001900.1:p.Leu340=
NM_001909.5:c.1018C>T MANE Select	NP_001900.1:p.Leu340=