Canonical Allele Identifier: CA2169200333
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891634717
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788745T>G , CM000677.2:g.34788745T>G GRCh38
NC_000015.9:g.35080946T>G , CM000677.1:g.35080946T>G GRCh37
NC_000015.8:g.32868238T>G NCBI36
NG_007553.1:g.11982A>C , LRG_388:g.11982A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1667A>C (ACTC1) ENSP00000290378.4:n.*1667A>C
NM_005159.4:c.*1667A>C , LRG_388t1:c.*1667A>C (ACTC1) NP_005150.1:n.*1667A>C
NR_120329.1:n.299+11314T>G (GJD2-DT)
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