Canonical Allele Identifier: CA6124855
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs374176001
ExAC: 11:66328152 T / C
gnomAD v2: 11-66328152-T-C
gnomAD v3: 11-66560681-T-C
gnomAD v4: 11-66560681-T-C
MyVariant Identifiers: chr11:g.66328152T>C (hg19) chr11:g.66560681T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560681T>C , CM000673.2:g.66560681T>C GRCh38
NC_000011.9:g.66328152T>C , CM000673.1:g.66328152T>C GRCh37
NC_000011.8:g.66084728T>C NCBI36
NG_013304.2:g.18762T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1786T>C MANE Select ENSP00000426797.1:p.Tyr596His
ENST00000502692.5:c.1915T>C ENSP00000422007.1:p.Tyr639His
ENST00000513398.1:c.1786T>C ENSP00000426797.1:p.Tyr596His
NM_001104.3:c.1786T>C NP_001095.2:p.Tyr596His
NM_001258371.2:c.1915T>C NP_001245300.2:p.Tyr639His
NM_001104.4:c.1786T>C MANE Select NP_001095.2:p.Tyr596His
NM_001258371.3:c.1915T>C NP_001245300.2:p.Tyr639His
Search 100 bp 5'
Search 100 bp 3'