Canonical Allele Identifier: CA712313620
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1238334374
gnomAD v3: 15-34789180-T-A
gnomAD v4: 15-34789180-T-A
MyVariant Identifiers: chr15:g.35081381T>A (hg19) chr15:g.34789180T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789180T>A , CM000677.2:g.34789180T>A GRCh38
NC_000015.9:g.35081381T>A , CM000677.1:g.35081381T>A GRCh37
NC_000015.8:g.32868673T>A NCBI36
NG_007553.1:g.11547A>T , LRG_388:g.11547A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1232A>T (ACTC1) ENSP00000290378.4:n.*1232A>T
NM_005159.4:c.*1232A>T , LRG_388t1:c.*1232A>T (ACTC1) NP_005150.1:n.*1232A>T
NR_120329.1:n.299+11749T>A (GJD2-DT)
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