Canonical Allele Identifier: CA2169202859
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891663095
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789948C>T , CM000677.2:g.34789948C>T GRCh38
NC_000015.9:g.35082149C>T , CM000677.1:g.35082149C>T GRCh37
NC_000015.8:g.32869441C>T NCBI36
NG_007553.1:g.10779G>A , LRG_388:g.10779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*464G>A (ACTC1) ENSP00000290378.4:n.*464G>A
NM_005159.4:c.*464G>A , LRG_388t1:c.*464G>A (ACTC1) NP_005150.1:n.*464G>A
NR_120329.1:n.299+12517C>T (GJD2-DT)
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