Canonical Allele Identifier: CA227481774
Gene: CASP5 HGNC NCBI

Linked Data

dbSNP Id: rs3181337
gnomAD v2: 11-104865438-T-C
gnomAD v3: 11-104994711-T-C
gnomAD v4: 11-104994711-T-C
MyVariant Identifiers: chr11:g.104865438T>C (hg19) chr11:g.104994711T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.104994711T>C , CM000673.2:g.104994711T>C GRCh38
NC_000011.9:g.104865438T>C , CM000673.1:g.104865438T>C GRCh37
NC_000011.8:g.104370648T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260315.8:c.*5-364A>G MANE Select ENSP00000260315.3:n.*5-364A>G
ENST00000260315.7:c.1310-364A>G ENSP00000260315.3:n.1310-364A>G
ENST00000393141.6:c.*5-364A>G ENSP00000376849.2:n.*5-364A>G
ENST00000418434.5:c.*5-364A>G ENSP00000398130.1:n.*5-364A>G
ENST00000438448.6:c.423-364A>G
ENST00000444749.6:c.*5-364A>G ENSP00000388365.2:n.*5-364A>G
NM_001136109.1:c.*5-364A>G NP_001129581.1:n.*5-364A>G
NM_001136110.1:c.*5-364A>G NP_001129582.1:n.*5-364A>G
NM_001136112.1:c.*5-364A>G NP_001129584.1:n.*5-364A>G
NM_004347.3:c.*5-364A>G NP_004338.3:n.*5-364A>G
NR_024239.1:n.1058-364A>G
NR_036562.1:n.806-364A>G
XM_011543020.1:c.*5-364A>G XP_011541322.1:n.*5-364A>G
NM_001136109.2:c.*5-364A>G NP_001129581.1:n.*5-364A>G
NM_001136110.2:c.*5-364A>G NP_001129582.1:n.*5-364A>G
NM_001136112.2:c.*5-364A>G NP_001129584.1:n.*5-364A>G
NM_004347.4:c.*5-364A>G NP_004338.3:n.*5-364A>G
NR_024239.2:n.1058-364A>G
NR_036562.2:n.806-364A>G
NM_004347.5:c.*5-364A>G MANE Select NP_004338.3:n.*5-364A>G
NM_001136109.3:c.*5-364A>G NP_001129581.1:n.*5-364A>G
NM_001136110.3:c.*5-364A>G NP_001129582.1:n.*5-364A>G
NM_001136112.3:c.*5-364A>G NP_001129584.1:n.*5-364A>G
NR_024239.3:n.1058-364A>G
NR_036562.3:n.806-364A>G
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