Canonical Allele Identifier: CA268658516
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs551847673
gnomAD v3: 15-34788669-G-A
gnomAD v4: 15-34788669-G-A
MyVariant Identifiers: chr15:g.35080870G>A (hg19) chr15:g.34788669G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788669G>A , CM000677.2:g.34788669G>A GRCh38
NC_000015.9:g.35080870G>A , CM000677.1:g.35080870G>A GRCh37
NC_000015.8:g.32868162G>A NCBI36
NG_007553.1:g.12058C>T , LRG_388:g.12058C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.4:c.*1743C>T (ACTC1) ENSP00000290378.4:n.*1743C>T
NM_005159.4:c.*1743C>T , LRG_388t1:c.*1743C>T (ACTC1) NP_005150.1:n.*1743C>T
NR_120329.1:n.299+11238G>A (GJD2-DT)
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