Canonical Allele Identifier: CA391629784
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792127G>C , CM000677.2:g.34792127G>C GRCh38
NC_000015.9:g.35084328G>C , CM000677.1:g.35084328G>C GRCh37
NC_000015.8:g.32871620G>C NCBI36
NG_007553.1:g.8600C>G , LRG_388:g.8600C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.877C>G (ACTC1)
ENST00000290378.6:c.771C>G (ACTC1) MANE Select ENSP00000290378.4:p.Phe257Leu
ENST00000647798.1:n.865C>G (ACTC1)
ENST00000650163.1:n.851C>G (ACTC1)
ENST00000290378.4:c.771C>G (ACTC1) ENSP00000290378.4:p.Phe257Leu
ENST00000557860.1:n.461C>G (ACTC1)
ENST00000560563.1:n.270C>G (ACTC1)
NM_005159.4:c.771C>G , LRG_388t1:c.771C>G (ACTC1) NP_005150.1:p.Phe257Leu
NR_120329.1:n.299+14696G>C (GJD2-DT)
NM_005159.5:c.771C>G (ACTC1) MANE Select NP_005150.1:p.Phe257Leu