Canonical Allele Identifier: CA10635856
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315667
ClinVar RCV Id: RCV000275537 RCV000315335 RCV000318608 RCV000367725 RCV000357064
dbSNP Id: rs886051072
MyVariant Identifiers: chr15:g.35081551C>T (hg19) chr15:g.34789350C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789350C>T , CM000677.2:g.34789350C>T GRCh38
NC_000015.9:g.35081551C>T , CM000677.1:g.35081551C>T GRCh37
NC_000015.8:g.32868843C>T NCBI36
NG_007553.1:g.11377G>A , LRG_388:g.11377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1062G>A (ACTC1) ENSP00000290378.4:n.*1062G>A
NM_005159.4:c.*1062G>A , LRG_388t1:c.*1062G>A (ACTC1) NP_005150.1:n.*1062G>A
NR_120329.1:n.299+11919C>T (GJD2-DT)
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