Canonical Allele Identifier: CA391630223
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792197G>A , CM000677.2:g.34792197G>A GRCh38
NC_000015.9:g.35084398G>A , CM000677.1:g.35084398G>A GRCh37
NC_000015.8:g.32871690G>A NCBI36
NG_007553.1:g.8530C>T , LRG_388:g.8530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.807C>T (ACTC1)
ENST00000290378.6:c.701C>T (ACTC1) MANE Select ENSP00000290378.4:p.Ser234Phe
ENST00000647798.1:n.795C>T (ACTC1)
ENST00000650163.1:n.781C>T (ACTC1)
ENST00000290378.4:c.701C>T (ACTC1) ENSP00000290378.4:p.Ser234Phe
ENST00000557860.1:n.391C>T (ACTC1)
ENST00000560563.1:n.200C>T (ACTC1)
NM_005159.4:c.701C>T , LRG_388t1:c.701C>T (ACTC1) NP_005150.1:p.Ser234Phe
NR_120329.1:n.299+14766G>A (GJD2-DT)
NM_005159.5:c.701C>T (ACTC1) MANE Select NP_005150.1:p.Ser234Phe