Canonical Allele Identifier: CA6124848
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs772244128
ExAC: 11:66328142 C / G
gnomAD v2: 11-66328142-C-G
gnomAD v4: 11-66560671-C-G
MyVariant Identifiers: chr11:g.66328142C>G (hg19) chr11:g.66560671C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560671C>G , CM000673.2:g.66560671C>G GRCh38
NC_000011.9:g.66328142C>G , CM000673.1:g.66328142C>G GRCh37
NC_000011.8:g.66084718C>G NCBI36
NG_013304.2:g.18752C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1776C>G MANE Select ENSP00000426797.1:p.Ile592Met
ENST00000502692.5:c.1905C>G ENSP00000422007.1:p.Ile635Met
ENST00000513398.1:c.1776C>G ENSP00000426797.1:p.Ile592Met
NM_001104.3:c.1776C>G NP_001095.2:p.Ile592Met
NM_001258371.2:c.1905C>G NP_001245300.2:p.Ile635Met
NM_001104.4:c.1776C>G MANE Select NP_001095.2:p.Ile592Met
NM_001258371.3:c.1905C>G NP_001245300.2:p.Ile635Met
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