Canonical Allele Identifier: CA712313360
Community Standard Title: NC_000015.10:g.34788730T>A
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788730T>A , CM000677.2:g.34788730T>A GRCh38
NC_000015.9:g.35080931T>A , CM000677.1:g.35080931T>A GRCh37
NC_000015.8:g.32868223T>A NCBI36
NG_007553.1:g.11997A>T , LRG_388:g.11997A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005159.4:c.*1682A>T , LRG_388t1:c.*1682A>T (ACTC1) NP_005150.1:n.*1682A>T
NR_120329.1:n.299+11299T>A (GJD2-DT)
ENST00000290378.4:c.*1682A>T (ACTC1) ENSP00000290378.4:n.*1682A>T
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