Canonical Allele Identifier: CA347493
Community Standard Title: NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
Gene: CAPN3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42359951G>A , CM000677.2:g.42359951G>A GRCh38
NC_000015.9:g.42652149G>A , CM000677.1:g.42652149G>A GRCh37
NC_000015.8:g.40439441G>A NCBI36
NG_008660.1:g.16849G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000070.3:c.146G>A MANE Select NP_000061.1:p.Arg49His
ENST00000397163.8:c.146G>A MANE Select ENSP00000380349.3:p.Arg49His
NM_000070.2:c.146G>A NP_000061.1:p.Arg49His
NM_024344.1:c.146G>A NP_077320.1:p.Arg49His
NM_024344.2:c.146G>A NP_077320.1:p.Arg49His
NM_173087.1:c.146G>A NP_775110.1:p.Arg49His
NM_173087.2:c.146G>A NP_775110.1:p.Arg49His
ENST00000318023.11:c.146G>A ENSP00000326281.8:p.Arg49His
ENST00000349748.7:c.146G>A ENSP00000183936.4:p.Arg49His
ENST00000349748.8:c.146G>A ENSP00000183936.4:p.Arg49His
ENST00000357568.7:c.146G>A ENSP00000350181.3:p.Arg49His
ENST00000357568.8:c.146G>A ENSP00000350181.3:p.Arg49His
ENST00000397163.7:c.146G>A ENSP00000380349.3:p.Arg49His
ENST00000466369.5:n.540+5498G>A
ENST00000483208.5:n.540+5498G>A
ENST00000495723.1:n.540+5498G>A
ENST00000549793.5:n.540+5498G>A
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