Canonical Allele Identifier: CA379092885

Gene: CTSD

Linked Data

• MyVariant Identifiers: chr11:g.1775055G>A (hg19) ; chr11:g.1753825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753825G>A , CM000673.2:g.1753825G>A	GRCh38
NC_000011.9:g.1775055G>A , CM000673.1:g.1775055G>A	GRCh37
NC_000011.8:g.1731631G>A	NCBI36
NG_008655.1:g.15168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1049C>T MANE Select	ENSP00000236671.2:p.Ser350Phe
ENST00000367196.4:c.944C>T	ENSP00000356164.4:p.Ser315Phe
ENST00000427721.3:c.474C>T
ENST00000429746.2:c.944C>T	ENSP00000402586.2:p.Ser315Phe
ENST00000433655.6:c.*215C>T	ENSP00000404902.1:n.*215C>T
ENST00000438213.6:c.1166C>T	ENSP00000415036.2:p.Ser389Phe
ENST00000497544.3:n.757C>T
ENST00000636397.1:c.1049C>T	ENSP00000489910.1:p.Ser350Phe
ENST00000636571.1:c.1028C>T	ENSP00000490770.1:p.Ser343Phe
ENST00000636579.1:c.50C>T	ENSP00000490489.1:p.Ser17Phe
ENST00000636615.1:c.1049C>T	ENSP00000490014.1:p.Ser350Phe
ENST00000636843.1:c.1043C>T	ENSP00000490897.1:p.Ser348Phe
ENST00000637158.1:n.647C>T
ENST00000637381.2:n.3477C>T
ENST00000637387.1:c.1028C>T	ENSP00000490598.1:p.Ser343Phe
ENST00000637815.2:c.1031C>T	ENSP00000490344.1:p.Ser344Phe
ENST00000637915.1:c.1049C>T	ENSP00000490471.1:p.Ser350Phe
ENST00000637937.1:n.357C>T
ENST00000678991.1:c.*910C>T	ENSP00000503019.1:n.*910C>T
ENST00000236671.6:c.1049C>T	ENSP00000236671.2:p.Ser350Phe
ENST00000427721.2:c.449C>T	ENSP00000415840.2:p.Ser150Phe
ENST00000429746.1:c.380C>T	ENSP00000402586.1:p.Ser127Phe
ENST00000433655.5:c.*215C>T	ENSP00000404902.1:n.*215C>T
ENST00000497544.1:n.757C>T
NM_001909.4:c.1049C>T	NP_001900.1:p.Ser350Phe
NM_001909.5:c.1049C>T MANE Select	NP_001900.1:p.Ser350Phe