Canonical Allele Identifier: CA2575670194
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792376C>T , CM000677.2:g.34792376C>T GRCh38
NC_000015.9:g.35084577C>T , CM000677.1:g.35084577C>T GRCh37
NC_000015.8:g.32871869C>T NCBI36
NG_007553.1:g.8351G>A , LRG_388:g.8351G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.722+32G>A (ACTC1)
ENST00000290378.6:c.616+32G>A (ACTC1) MANE Select ENSP00000290378.4:n.616+32G>A
ENST00000647798.1:n.710+32G>A (ACTC1)
ENST00000648556.1:n.773+32G>A (ACTC1)
ENST00000650163.1:n.696+32G>A (ACTC1)
ENST00000290378.4:c.616+32G>A (ACTC1) ENSP00000290378.4:n.616+32G>A
ENST00000557860.1:n.306+32G>A (ACTC1)
ENST00000560563.1:n.115+32G>A (ACTC1)
NM_005159.4:c.616+32G>A , LRG_388t1:c.616+32G>A (ACTC1) NP_005150.1:n.616+32G>A
NR_120329.1:n.299+14945C>T (GJD2-DT)
NM_005159.5:c.616+32G>A (ACTC1) MANE Select NP_005150.1:n.616+32G>A
Search 100 bp 5'
Search 100 bp 3'