Canonical Allele Identifier: CA2614513735
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560439-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560439G>T , CM000673.2:g.66560439G>T GRCh38
NC_000011.9:g.66327910G>T , CM000673.1:g.66327910G>T GRCh37
NC_000011.8:g.66084486G>T NCBI36
NG_013304.2:g.18520G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1677+128G>T MANE Select ENSP00000426797.1:n.1677+128G>T
ENST00000502692.5:c.1806+128G>T ENSP00000422007.1:n.1806+128G>T
ENST00000513398.1:c.1677+128G>T ENSP00000426797.1:n.1677+128G>T
NM_001104.3:c.1677+128G>T NP_001095.2:n.1677+128G>T
NM_001258371.2:c.1806+128G>T NP_001245300.2:n.1806+128G>T
NM_001104.4:c.1677+128G>T MANE Select NP_001095.2:n.1677+128G>T
NM_001258371.3:c.1806+128G>T NP_001245300.2:n.1806+128G>T
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