Canonical Allele Identifier: CA968568899
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891669477
gnomAD v3: 15-34790173-C-A
gnomAD v4: 15-34790173-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790173C>A , CM000677.2:g.34790173C>A GRCh38
NC_000015.9:g.35082374C>A , CM000677.1:g.35082374C>A GRCh37
NC_000015.8:g.32869666C>A NCBI36
NG_007553.1:g.10554G>T , LRG_388:g.10554G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.2273G>T (ACTC1)
ENST00000290378.4:c.*239G>T (ACTC1) ENSP00000290378.4:n.*239G>T
NM_005159.4:c.*239G>T , LRG_388t1:c.*239G>T (ACTC1) NP_005150.1:n.*239G>T
NR_120329.1:n.299+12742C>A (GJD2-DT)
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