Canonical Allele Identifier: CA391629688
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.912T>A (ACTC1)
ENST00000290378.6:c.806T>A (ACTC1) MANE Select ENSP00000290378.4:p.Ile269Asn
ENST00000647798.1:n.900T>A (ACTC1)
ENST00000650163.1:n.886T>A (ACTC1)
ENST00000290378.4:c.806T>A (ACTC1) ENSP00000290378.4:p.Ile269Asn
ENST00000557860.1:n.496T>A (ACTC1)
ENST00000560563.1:n.305T>A (ACTC1)
NM_005159.4:c.806T>A , LRG_388t1:c.806T>A (ACTC1) NP_005150.1:p.Ile269Asn
NR_120329.1:n.299+14661A>T (GJD2-DT)
NM_005159.5:c.806T>A (ACTC1) MANE Select NP_005150.1:p.Ile269Asn