Canonical Allele Identifier: CA381447706
Gene: ACTN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.66328139G>C (hg19) chr11:g.66560668G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560668G>C , CM000673.2:g.66560668G>C GRCh38
NC_000011.9:g.66328139G>C , CM000673.1:g.66328139G>C GRCh37
NC_000011.8:g.66084715G>C NCBI36
NG_013304.2:g.18749G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1773G>C MANE Select ENSP00000426797.1:p.Lys591Asn
ENST00000502692.5:c.1902G>C ENSP00000422007.1:p.Lys634Asn
ENST00000513398.1:c.1773G>C ENSP00000426797.1:p.Lys591Asn
NM_001104.3:c.1773G>C NP_001095.2:p.Lys591Asn
NM_001258371.2:c.1902G>C NP_001245300.2:p.Lys634Asn
NM_001104.4:c.1773G>C MANE Select NP_001095.2:p.Lys591Asn
NM_001258371.3:c.1902G>C NP_001245300.2:p.Lys634Asn
Search 100 bp 5'
Search 100 bp 3'