Canonical Allele Identifier: CA342322490
Gene: CTSS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150733135T>G , CM000663.2:g.150733135T>G GRCh38
NC_000001.10:g.150705611T>G , CM000663.1:g.150705611T>G GRCh37
NC_000001.9:g.148972235T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368985.8:c.907A>C MANE Select ENSP00000357981.3:p.Asn303His
ENST00000448301.7:c.679A>C ENSP00000408414.2:p.Asn227His
ENST00000472977.7:c.907A>C ENSP00000475176.2:p.Asn303His
ENST00000483930.2:c.*101A>C ENSP00000475812.2:n.*101A>C
ENST00000607427.2:c.907A>C ENSP00000475557.2:p.Asn303His
ENST00000679512.1:c.804A>C ENSP00000505113.1:p.Thr268=
ENST00000679898.1:c.634A>C ENSP00000505326.1:p.Asn212His
ENST00000680288.1:c.757A>C ENSP00000506001.1:p.Asn253His
ENST00000680311.1:c.638A>C ENSP00000505020.1:p.Gln213Pro
ENST00000680471.1:c.*78A>C ENSP00000506603.1:n.*78A>C
ENST00000680664.1:c.730A>C ENSP00000506248.1:p.Asn244His
ENST00000680931.1:c.*257A>C ENSP00000504934.1:n.*257A>C
ENST00000681357.1:n.297A>C
ENST00000681444.1:c.907A>C ENSP00000505359.1:p.Asn303His
ENST00000368985.7:c.907A>C ENSP00000357981.3:p.Asn303His
ENST00000448301.6:c.757A>C ENSP00000408414.1:p.Asn253His
ENST00000472977.6:c.200A>C
ENST00000483930.1:c.455A>C ENSP00000475812.1:n.455A>C
NM_001199739.1:c.757A>C NP_001186668.1:p.Asn253His
NM_004079.4:c.907A>C NP_004070.3:p.Asn303His
NM_004079.5:c.907A>C MANE Select NP_004070.3:p.Asn303His
NM_001199739.2:c.757A>C NP_001186668.1:p.Asn253His