Canonical Allele Identifier: CA2614513748
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560445-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560445C>G , CM000673.2:g.66560445C>G GRCh38
NC_000011.9:g.66327916C>G , CM000673.1:g.66327916C>G GRCh37
NC_000011.8:g.66084492C>G NCBI36
NG_013304.2:g.18526C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1678-128C>G MANE Select ENSP00000426797.1:n.1678-128C>G
ENST00000502692.5:c.1807-128C>G ENSP00000422007.1:n.1807-128C>G
ENST00000513398.1:c.1678-128C>G ENSP00000426797.1:n.1678-128C>G
NM_001104.3:c.1678-128C>G NP_001095.2:n.1678-128C>G
NM_001258371.2:c.1807-128C>G NP_001245300.2:n.1807-128C>G
NM_001104.4:c.1678-128C>G MANE Select NP_001095.2:n.1678-128C>G
NM_001258371.3:c.1807-128C>G NP_001245300.2:n.1807-128C>G
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