Canonical Allele Identifier: CA391630913
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 928440
dbSNP Id: rs1891723828

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792441G>A , CM000677.2:g.34792441G>A GRCh38
NC_000015.9:g.35084642G>A , CM000677.1:g.35084642G>A GRCh37
NC_000015.8:g.32871934G>A NCBI36
NG_007553.1:g.8286C>T , LRG_388:g.8286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.689C>T (ACTC1)
ENST00000290378.6:c.583C>T (ACTC1) MANE Select ENSP00000290378.4:p.Leu195Phe
ENST00000647798.1:n.677C>T (ACTC1)
ENST00000648556.1:n.740C>T (ACTC1)
ENST00000650163.1:n.663C>T (ACTC1)
ENST00000290378.4:c.583C>T (ACTC1) ENSP00000290378.4:p.Leu195Phe
ENST00000557860.1:n.273C>T (ACTC1)
ENST00000560563.1:n.82C>T (ACTC1)
NM_005159.4:c.583C>T , LRG_388t1:c.583C>T (ACTC1) NP_005150.1:p.Leu195Phe
NR_120329.1:n.299+15010G>A (GJD2-DT)
NM_005159.5:c.583C>T (ACTC1) MANE Select NP_005150.1:p.Leu195Phe