Canonical Allele Identifier: CA381447529
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1173916674
gnomAD v4: 11-66560644-G-C
MyVariant Identifiers: chr11:g.66560644G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560644G>C , CM000673.2:g.66560644G>C GRCh38
NG_013304.2:g.18725G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1749G>C MANE Select ENSP00000426797.1:p.Met583Ile
ENST00000502692.5:c.1878G>C ENSP00000422007.1:p.Met626Ile
ENST00000513398.1:c.1749G>C ENSP00000426797.1:p.Met583Ile
NM_001104.3:c.1749G>C NP_001095.2:p.Met583Ile
NM_001258371.2:c.1878G>C NP_001245300.2:p.Met626Ile
NM_001104.4:c.1749G>C MANE Select NP_001095.2:p.Met583Ile
NM_001258371.3:c.1878G>C NP_001245300.2:p.Met626Ile
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