Canonical Allele Identifier: CA476740626
Gene: CASP5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.104877829T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105007102T>C , CM000673.2:g.105007102T>C GRCh38
NC_000011.9:g.104877829T>C , CM000673.1:g.104877829T>C GRCh37
NC_000011.8:g.104383039T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260315.8:c.414A>G MANE Select ENSP00000260315.3:p.Gln138=
ENST00000260315.7:c.414A>G ENSP00000260315.3:p.Gln138=
ENST00000393141.6:c.453A>G ENSP00000376849.2:p.Gln151=
ENST00000418434.5:c.8-3719A>G ENSP00000398130.1:n.8-3719A>G
ENST00000444749.6:c.240A>G ENSP00000388365.2:p.Gln80=
ENST00000456094.1:c.366A>G ENSP00000415241.1:p.Gln122=
ENST00000456200.5:c.240A>G ENSP00000408455.1:p.Gln80=
ENST00000526056.5:c.453A>G ENSP00000436877.1:p.Gln151=
ENST00000531367.5:c.8-3719A>G ENSP00000434471.1:n.8-3719A>G
NM_001136109.1:c.240A>G NP_001129581.1:p.Gln80=
NM_001136110.1:c.8-3719A>G NP_001129582.1:n.8-3719A>G
NM_001136112.1:c.453A>G NP_001129584.1:p.Gln151=
NM_004347.3:c.414A>G NP_004338.3:p.Gln138=
NR_024239.1:n.272A>G
NR_036562.1:n.40-4901A>G
XM_011543020.1:c.181+1705A>G XP_011541322.1:n.181+1705A>G
XM_011543021.1:c.414A>G XP_011541323.1:p.Gln138=
NM_001136109.2:c.240A>G NP_001129581.1:p.Gln80=
NM_001136110.2:c.8-3719A>G NP_001129582.1:n.8-3719A>G
NM_001136112.2:c.453A>G NP_001129584.1:p.Gln151=
NM_004347.4:c.414A>G NP_004338.3:p.Gln138=
NR_024239.2:n.272A>G
NR_036562.2:n.40-4901A>G
XM_011543021.2:c.414A>G XP_011541323.1:p.Gln138=
NM_004347.5:c.414A>G MANE Select NP_004338.3:p.Gln138=
NM_001136109.3:c.240A>G NP_001129581.1:p.Gln80=
NM_001136110.3:c.8-3719A>G NP_001129582.1:n.8-3719A>G
NM_001136112.3:c.453A>G NP_001129584.1:p.Gln151=
NR_024239.3:n.272A>G
NR_036562.3:n.40-4901A>G