Canonical Allele Identifier: CA391631742
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793449T>C , CM000677.2:g.34793449T>C GRCh38
NC_000015.9:g.35085650T>C , CM000677.1:g.35085650T>C GRCh37
NC_000015.8:g.32872942T>C NCBI36
NG_007553.1:g.7278A>G , LRG_388:g.7278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.356A>G (ACTC1)
ENST00000290378.6:c.250A>G (ACTC1) MANE Select ENSP00000290378.4:p.Met84Val
ENST00000647798.1:n.397A>G (ACTC1)
ENST00000648556.1:n.407A>G (ACTC1)
ENST00000650163.1:n.330A>G (ACTC1)
ENST00000290378.4:c.250A>G (ACTC1) ENSP00000290378.4:p.Met84Val
NM_005159.4:c.250A>G , LRG_388t1:c.250A>G (ACTC1) NP_005150.1:p.Met84Val
NR_120329.1:n.299+16018T>C (GJD2-DT)
NM_005159.5:c.250A>G (ACTC1) MANE Select NP_005150.1:p.Met84Val