Canonical Allele Identifier: CA471985134

Gene: CTSD

Linked Data

• gnomAD v4: 11-1757338-G-A
• MyVariant Identifiers: chr11:g.1778568G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757338G>A , CM000673.2:g.1757338G>A	GRCh38
NC_000011.9:g.1778568G>A , CM000673.1:g.1778568G>A	GRCh37
NC_000011.8:g.1735144G>A	NCBI36
NG_008655.1:g.11655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.690C>T MANE Select	ENSP00000236671.2:p.Ser230=
ENST00000367196.4:c.585C>T	ENSP00000356164.4:p.Ser195=
ENST00000427721.3:c.115C>T
ENST00000429746.2:c.585C>T	ENSP00000402586.2:p.Ser195=
ENST00000433655.6:c.690C>T	ENSP00000404902.1:p.Ser230=
ENST00000438213.6:c.690C>T	ENSP00000415036.2:p.Ser230=
ENST00000636397.1:c.690C>T	ENSP00000489910.1:p.Ser230=
ENST00000636571.1:c.669C>T	ENSP00000490770.1:p.Ser223=
ENST00000636615.1:c.690C>T	ENSP00000490014.1:p.Ser230=
ENST00000636843.1:c.684C>T	ENSP00000490897.1:p.Ser228=
ENST00000637158.1:n.288C>T
ENST00000637381.2:n.3118C>T
ENST00000637387.1:c.690C>T	ENSP00000490598.1:p.Ser230=
ENST00000637815.2:c.690C>T	ENSP00000490344.1:p.Ser230=
ENST00000637915.1:c.690C>T	ENSP00000490471.1:p.Ser230=
ENST00000678991.1:c.*551C>T	ENSP00000503019.1:n.*551C>T
ENST00000236671.6:c.690C>T	ENSP00000236671.2:p.Ser230=
ENST00000367196.3:c.585C>T	ENSP00000356164.3:p.Ser195=
ENST00000427721.2:c.90C>T	ENSP00000415840.2:p.Ser30=
ENST00000433655.5:c.690C>T	ENSP00000404902.1:p.Ser230=
ENST00000438213.5:c.645C>T	ENSP00000415036.1:p.Ser215=
NM_001909.4:c.690C>T	NP_001900.1:p.Ser230=
NM_001909.5:c.690C>T MANE Select	NP_001900.1:p.Ser230=