Canonical Allele Identifier: CA2575670095
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790352G>T , CM000677.2:g.34790352G>T GRCh38
NC_000015.9:g.35082553G>T , CM000677.1:g.35082553G>T GRCh37
NC_000015.8:g.32869845G>T NCBI36
NG_007553.1:g.10375C>A , LRG_388:g.10375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2094C>A (ACTC1)
ENST00000290378.6:c.*60C>A (ACTC1) MANE Select ENSP00000290378.4:n.*60C>A
ENST00000647798.1:n.1288C>A (ACTC1)
ENST00000650163.1:n.1274C>A (ACTC1)
ENST00000290378.4:c.*60C>A (ACTC1) ENSP00000290378.4:n.*60C>A
NM_005159.4:c.*60C>A , LRG_388t1:c.*60C>A (ACTC1) NP_005150.1:n.*60C>A
NR_120329.1:n.299+12921G>T (GJD2-DT)
NM_005159.5:c.*60C>A (ACTC1) MANE Select NP_005150.1:n.*60C>A
Search 100 bp 5'
Search 100 bp 3'