Canonical Allele Identifier: CA2627661841
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790116-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790116A>G , CM000677.2:g.34790116A>G GRCh38
NC_000015.9:g.35082317A>G , CM000677.1:g.35082317A>G GRCh37
NC_000015.8:g.32869609A>G NCBI36
NG_007553.1:g.10611T>C , LRG_388:g.10611T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2330T>C (ACTC1)
ENST00000290378.4:c.*296T>C (ACTC1) ENSP00000290378.4:n.*296T>C
NM_005159.4:c.*296T>C , LRG_388t1:c.*296T>C (ACTC1) NP_005150.1:n.*296T>C
NR_120329.1:n.299+12685A>G (GJD2-DT)
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