Canonical Allele Identifier: CA042675
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs745939876
ExAC: 15:35084262 G / A
gnomAD v2: 15-35084262-G-A
gnomAD v3: 15-34792061-G-A
gnomAD v4: 15-34792061-G-A
COSMIC: COSN7043525
MyVariant Identifiers: chr15:g.35084262G>A (hg19) chr15:g.34792061G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792061G>A , CM000677.2:g.34792061G>A GRCh38
NC_000015.9:g.35084262G>A , CM000677.1:g.35084262G>A GRCh37
NC_000015.8:g.32871554G>A NCBI36
NG_007553.1:g.8666C>T , LRG_388:g.8666C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.943C>T (ACTC1)
ENST00000290378.6:c.808+29C>T (ACTC1) MANE Select ENSP00000290378.4:n.808+29C>T
ENST00000647798.1:n.902+29C>T (ACTC1)
ENST00000650163.1:n.888+29C>T (ACTC1)
ENST00000290378.4:c.808+29C>T (ACTC1) ENSP00000290378.4:n.808+29C>T
ENST00000557860.1:n.498+29C>T (ACTC1)
ENST00000560563.1:n.336C>T (ACTC1)
NM_005159.4:c.808+29C>T , LRG_388t1:c.808+29C>T (ACTC1) NP_005150.1:n.808+29C>T
NR_120329.1:n.299+14630G>A (GJD2-DT)
NM_005159.5:c.808+29C>T (ACTC1) MANE Select NP_005150.1:n.808+29C>T
Search 100 bp 5'
Search 100 bp 3'