Canonical Allele Identifier: CA30095072
Gene: CTSS HGNC NCBI

Linked Data

dbSNP Id: rs146456111
gnomAD v4: 1-150733109-C-A
MyVariant Identifiers: chr1:g.150705585C>A (hg19) chr1:g.150733109C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733109C>A , CM000663.2:g.150733109C>A GRCh38
NC_000001.10:g.150705585C>A , CM000663.1:g.150705585C>A GRCh37
NC_000001.9:g.148972209C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000368985.8:c.933G>T MANE Select ENSP00000357981.3:p.Arg311=
ENST00000448301.7:c.705G>T ENSP00000408414.2:p.Arg235=
ENST00000472977.7:c.933G>T ENSP00000475176.2:p.Arg311=
ENST00000483930.2:c.*127G>T ENSP00000475812.2:n.*127G>T
ENST00000607427.2:c.933G>T ENSP00000475557.2:p.Arg311=
ENST00000679512.1:c.830G>T ENSP00000505113.1:p.Gly277Val
ENST00000679898.1:c.660G>T ENSP00000505326.1:p.Arg220=
ENST00000680288.1:c.783G>T ENSP00000506001.1:p.Arg261=
ENST00000680311.1:c.*16G>T ENSP00000505020.1:n.*16G>T
ENST00000680471.1:c.*104G>T ENSP00000506603.1:n.*104G>T
ENST00000680664.1:c.756G>T ENSP00000506248.1:p.Arg252=
ENST00000680931.1:c.*283G>T ENSP00000504934.1:n.*283G>T
ENST00000681357.1:n.323G>T
ENST00000681444.1:c.933G>T ENSP00000505359.1:p.Arg311=
ENST00000368985.7:c.933G>T ENSP00000357981.3:p.Arg311=
ENST00000448301.6:c.783G>T ENSP00000408414.1:p.Arg261=
ENST00000472977.6:c.226G>T
ENST00000483930.1:c.481G>T ENSP00000475812.1:n.481G>T
NM_001199739.1:c.783G>T NP_001186668.1:p.Arg261=
NM_004079.4:c.933G>T NP_004070.3:p.Arg311=
NM_004079.5:c.933G>T MANE Select NP_004070.3:p.Arg311=
NM_001199739.2:c.783G>T NP_001186668.1:p.Arg261=
Search 100 bp 5'
Search 100 bp 3'