Canonical Allele Identifier: CA268659981
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1000527685
gnomAD v3: 15-34790221-A-C
gnomAD v4: 15-34790221-A-C
MyVariant Identifiers: chr15:g.35082422A>C (hg19) chr15:g.34790221A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790221A>C , CM000677.2:g.34790221A>C GRCh38
NC_000015.9:g.35082422A>C , CM000677.1:g.35082422A>C GRCh37
NC_000015.8:g.32869714A>C NCBI36
NG_007553.1:g.10506T>G , LRG_388:g.10506T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2225T>G (ACTC1)
ENST00000290378.4:c.*191T>G (ACTC1) ENSP00000290378.4:n.*191T>G
NM_005159.4:c.*191T>G , LRG_388t1:c.*191T>G (ACTC1) NP_005150.1:n.*191T>G
NR_120329.1:n.299+12790A>C (GJD2-DT)
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