Canonical Allele Identifier: CA6124816
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs758092620
ExAC: 11:66327818 C / T
gnomAD v2: 11-66327818-C-T
gnomAD v4: 11-66560347-C-T
MyVariant Identifiers: chr11:g.66327818C>T (hg19) chr11:g.66560347C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560347C>T , CM000673.2:g.66560347C>T GRCh38
NC_000011.9:g.66327818C>T , CM000673.1:g.66327818C>T GRCh37
NC_000011.8:g.66084394C>T NCBI36
NG_013304.2:g.18428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+36C>T MANE Select ENSP00000426797.1:n.1677+36C>T
ENST00000502692.5:c.1806+36C>T ENSP00000422007.1:n.1806+36C>T
ENST00000513398.1:c.1677+36C>T ENSP00000426797.1:n.1677+36C>T
NM_001104.3:c.1677+36C>T NP_001095.2:n.1677+36C>T
NM_001258371.2:c.1806+36C>T NP_001245300.2:n.1806+36C>T
NM_001104.4:c.1677+36C>T MANE Select NP_001095.2:n.1677+36C>T
NM_001258371.3:c.1806+36C>T NP_001245300.2:n.1806+36C>T
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