Canonical Allele Identifier: CA227446990
Gene: CASP5 HGNC NCBI

Linked Data

dbSNP Id: rs507879

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105007200T>G , CM000673.2:g.105007200T>G GRCh38
NC_000011.9:g.104877927T>G , CM000673.1:g.104877927T>G GRCh37
NC_000011.8:g.104383137T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260315.8:c.316A>C MANE Select ENSP00000260315.3:p.Thr106Pro
ENST00000260315.7:c.316A>C ENSP00000260315.3:p.Thr106Pro
ENST00000393141.6:c.355A>C ENSP00000376849.2:p.Thr119Pro
ENST00000418434.5:c.8-3817A>C ENSP00000398130.1:n.8-3817A>C
ENST00000444749.6:c.142A>C ENSP00000388365.2:p.Thr48Pro
ENST00000456094.1:c.268A>C ENSP00000415241.1:p.Thr90Pro
ENST00000456200.5:c.142A>C ENSP00000408455.1:p.Thr48Pro
ENST00000526056.5:c.355A>C ENSP00000436877.1:p.Thr119Pro
ENST00000531367.5:c.8-3817A>C ENSP00000434471.1:n.8-3817A>C
NM_001136109.1:c.142A>C NP_001129581.1:p.Thr48Pro
NM_001136110.1:c.8-3817A>C NP_001129582.1:n.8-3817A>C
NM_001136112.1:c.355A>C NP_001129584.1:p.Thr119Pro
NM_004347.3:c.316A>C NP_004338.3:p.Thr106Pro
NR_024239.1:n.174A>C
NR_036562.1:n.40-4999A>C
XM_011543020.1:c.181+1607A>C XP_011541322.1:n.181+1607A>C
XM_011543021.1:c.316A>C XP_011541323.1:p.Thr106Pro
NM_001136109.2:c.142A>C NP_001129581.1:p.Thr48Pro
NM_001136110.2:c.8-3817A>C NP_001129582.1:n.8-3817A>C
NM_001136112.2:c.355A>C NP_001129584.1:p.Thr119Pro
NM_004347.4:c.316A>C NP_004338.3:p.Thr106Pro
NR_024239.2:n.174A>C
NR_036562.2:n.40-4999A>C
XM_011543021.2:c.316A>C XP_011541323.1:p.Thr106Pro
NM_004347.5:c.316A>C MANE Select NP_004338.3:p.Thr106Pro
NM_001136109.3:c.142A>C NP_001129581.1:p.Thr48Pro
NM_001136110.3:c.8-3817A>C NP_001129582.1:n.8-3817A>C
NM_001136112.3:c.355A>C NP_001129584.1:p.Thr119Pro
NR_024239.3:n.174A>C
NR_036562.3:n.40-4999A>C