Canonical Allele Identifier: CA379095820

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1778557C>T (hg19) ; chr11:g.1757327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757327C>T , CM000673.2:g.1757327C>T	GRCh38
NC_000011.9:g.1778557C>T , CM000673.1:g.1778557C>T	GRCh37
NC_000011.8:g.1735133C>T	NCBI36
NG_008655.1:g.11666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.701G>A MANE Select	ENSP00000236671.2:p.Ser234Asn
ENST00000367196.4:c.596G>A	ENSP00000356164.4:p.Ser199Asn
ENST00000427721.3:c.126G>A
ENST00000429746.2:c.596G>A	ENSP00000402586.2:p.Ser199Asn
ENST00000433655.6:c.701G>A	ENSP00000404902.1:p.Ser234Asn
ENST00000438213.6:c.701G>A	ENSP00000415036.2:p.Ser234Asn
ENST00000636397.1:c.701G>A	ENSP00000489910.1:p.Ser234Asn
ENST00000636571.1:c.680G>A	ENSP00000490770.1:p.Ser227Asn
ENST00000636615.1:c.701G>A	ENSP00000490014.1:p.Ser234Asn
ENST00000636843.1:c.695G>A	ENSP00000490897.1:p.Ser232Asn
ENST00000637158.1:n.299G>A
ENST00000637381.2:n.3129G>A
ENST00000637387.1:c.701G>A	ENSP00000490598.1:p.Ser234Asn
ENST00000637815.2:c.701G>A	ENSP00000490344.1:p.Ser234Asn
ENST00000637915.1:c.701G>A	ENSP00000490471.1:p.Ser234Asn
ENST00000678991.1:c.*562G>A	ENSP00000503019.1:n.*562G>A
ENST00000236671.6:c.701G>A	ENSP00000236671.2:p.Ser234Asn
ENST00000367196.3:c.596G>A	ENSP00000356164.3:p.Ser199Asn
ENST00000427721.2:c.101G>A	ENSP00000415840.2:p.Ser34Asn
ENST00000433655.5:c.701G>A	ENSP00000404902.1:p.Ser234Asn
ENST00000438213.5:c.656G>A	ENSP00000415036.1:p.Ser219Asn
NM_001909.4:c.701G>A	NP_001900.1:p.Ser234Asn
NM_001909.5:c.701G>A MANE Select	NP_001900.1:p.Ser234Asn