Canonical Allele Identifier: CA019933
Community Standard Title: NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792092A>G , CM000677.2:g.34792092A>G GRCh38
NC_000015.9:g.35084293A>G , CM000677.1:g.35084293A>G GRCh37
NC_000015.8:g.32871585A>G NCBI36
NG_007553.1:g.8635T>C , LRG_388:g.8635T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005159.5:c.806T>C (ACTC1) MANE Select NP_005150.1:p.Ile269Thr
ENST00000290378.6:c.806T>C (ACTC1) MANE Select ENSP00000290378.4:p.Ile269Thr
NM_005159.4:c.806T>C , LRG_388t1:c.806T>C (ACTC1) NP_005150.1:p.Ile269Thr
NR_120329.1:n.299+14661A>G (GJD2-DT)
ENST00000290378.4:c.806T>C (ACTC1) ENSP00000290378.4:p.Ile269Thr
ENST00000557860.1:n.496T>C (ACTC1)
ENST00000560563.1:n.305T>C (ACTC1)
ENST00000560563.2:n.912T>C (ACTC1)
ENST00000647798.1:n.900T>C (ACTC1)
ENST00000650163.1:n.886T>C (ACTC1)
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