Canonical Allele Identifier: CA10645712
Community Standard Title: NC_000015.10:g.34788730T>C
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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