Canonical Allele Identifier: CA420696584
Gene: CTSS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.150705600T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733124T>C , CM000663.2:g.150733124T>C GRCh38
NC_000001.10:g.150705600T>C , CM000663.1:g.150705600T>C GRCh37
NC_000001.9:g.148972224T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000368985.8:c.918A>G MANE Select ENSP00000357981.3:p.Glu306=
ENST00000448301.7:c.690A>G ENSP00000408414.2:p.Glu230=
ENST00000472977.7:c.918A>G ENSP00000475176.2:p.Glu306=
ENST00000483930.2:c.*112A>G ENSP00000475812.2:n.*112A>G
ENST00000607427.2:c.918A>G ENSP00000475557.2:p.Glu306=
ENST00000679512.1:c.815A>G ENSP00000505113.1:p.Lys272Arg
ENST00000679898.1:c.645A>G ENSP00000505326.1:p.Glu215=
ENST00000680288.1:c.768A>G ENSP00000506001.1:p.Glu256=
ENST00000680311.1:c.*1A>G ENSP00000505020.1:n.*1A>G
ENST00000680471.1:c.*89A>G ENSP00000506603.1:n.*89A>G
ENST00000680664.1:c.741A>G ENSP00000506248.1:p.Glu247=
ENST00000680931.1:c.*268A>G ENSP00000504934.1:n.*268A>G
ENST00000681357.1:n.308A>G
ENST00000681444.1:c.918A>G ENSP00000505359.1:p.Glu306=
ENST00000368985.7:c.918A>G ENSP00000357981.3:p.Glu306=
ENST00000448301.6:c.768A>G ENSP00000408414.1:p.Glu256=
ENST00000472977.6:c.211A>G
ENST00000483930.1:c.466A>G ENSP00000475812.1:n.466A>G
NM_001199739.1:c.768A>G NP_001186668.1:p.Glu256=
NM_004079.4:c.918A>G NP_004070.3:p.Glu306=
NM_004079.5:c.918A>G MANE Select NP_004070.3:p.Glu306=
NM_001199739.2:c.768A>G NP_001186668.1:p.Glu256=