Canonical Allele Identifier: CA472140550

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775129G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753899G>A , CM000673.2:g.1753899G>A	GRCh38
NC_000011.9:g.1775129G>A , CM000673.1:g.1775129G>A	GRCh37
NC_000011.8:g.1731705G>A	NCBI36
NG_008655.1:g.15094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.975C>T MANE Select	ENSP00000236671.2:p.Tyr325=
ENST00000367196.4:c.870C>T	ENSP00000356164.4:p.Tyr290=
ENST00000427721.3:c.400C>T
ENST00000429746.2:c.870C>T	ENSP00000402586.2:p.Tyr290=
ENST00000433655.6:c.*141C>T	ENSP00000404902.1:n.*141C>T
ENST00000438213.6:c.1092C>T	ENSP00000415036.2:p.Tyr364=
ENST00000497544.3:n.683C>T
ENST00000636397.1:c.975C>T	ENSP00000489910.1:p.Tyr325=
ENST00000636571.1:c.954C>T	ENSP00000490770.1:p.Tyr318=
ENST00000636615.1:c.975C>T	ENSP00000490014.1:p.Tyr325=
ENST00000636843.1:c.969C>T	ENSP00000490897.1:p.Tyr323=
ENST00000637158.1:n.573C>T
ENST00000637381.2:n.3403C>T
ENST00000637387.1:c.973-19C>T	ENSP00000490598.1:n.973-19C>T
ENST00000637815.2:c.957C>T	ENSP00000490344.1:p.Tyr319=
ENST00000637915.1:c.975C>T	ENSP00000490471.1:p.Tyr325=
ENST00000637937.1:n.283C>T
ENST00000678991.1:c.*836C>T	ENSP00000503019.1:n.*836C>T
ENST00000236671.6:c.975C>T	ENSP00000236671.2:p.Tyr325=
ENST00000427721.2:c.375C>T	ENSP00000415840.2:p.Tyr125=
ENST00000429746.1:c.306C>T	ENSP00000402586.1:p.Tyr102=
ENST00000433655.5:c.*141C>T	ENSP00000404902.1:n.*141C>T
ENST00000497544.1:n.683C>T
NM_001909.4:c.975C>T	NP_001900.1:p.Tyr325=
NM_001909.5:c.975C>T MANE Select	NP_001900.1:p.Tyr325=