Canonical Allele Identifier: CA2172709774
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42387863T= , CM000677.2:g.42387863T= GRCh38
NC_000015.9:g.42680061T= , CM000677.1:g.42680061T= GRCh37
NC_000015.8:g.40467353T= NCBI36
NG_008660.1:g.44761T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.609T= ENSP00000183936.4:p.Ala203=
ENST00000357568.8:c.609T= ENSP00000350181.3:p.Ala203=
ENST00000397163.8:c.609T= MANE Select ENSP00000380349.3:p.Ala203=
ENST00000466369.5:n.1118T=
ENST00000483208.5:n.840T=
ENST00000495723.1:n.840T=
ENST00000549793.5:n.840T=
ENST00000638141.2:n.624T=
ENST00000673705.1:c.70+3311T= ENSP00000501021.1:n.70+3311T=
ENST00000318023.11:c.609T= ENSP00000326281.8:p.Ala203=
ENST00000349748.7:c.609T= ENSP00000183936.4:p.Ala203=
ENST00000357568.7:c.609T= ENSP00000350181.3:p.Ala203=
ENST00000397163.7:c.609T= ENSP00000380349.3:p.Ala203=
NM_000070.2:c.609T= NP_000061.1:p.Ala203=
NM_024344.1:c.609T= NP_077320.1:p.Ala203=
NM_173087.1:c.609T= NP_775110.1:p.Ala203=
NM_000070.3:c.609T= MANE Select NP_000061.1:p.Ala203=
NM_024344.2:c.609T= NP_077320.1:p.Ala203=
NM_173087.2:c.609T= NP_775110.1:p.Ala203=