Canonical Allele Identifier: CA391630897
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792433C>G , CM000677.2:g.34792433C>G GRCh38
NC_000015.9:g.35084634C>G , CM000677.1:g.35084634C>G GRCh37
NC_000015.8:g.32871926C>G NCBI36
NG_007553.1:g.8294G>C , LRG_388:g.8294G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.697G>C (ACTC1)
ENST00000290378.6:c.591G>C (ACTC1) MANE Select ENSP00000290378.4:p.Glu197Asp
ENST00000647798.1:n.685G>C (ACTC1)
ENST00000648556.1:n.748G>C (ACTC1)
ENST00000650163.1:n.671G>C (ACTC1)
ENST00000290378.4:c.591G>C (ACTC1) ENSP00000290378.4:p.Glu197Asp
ENST00000557860.1:n.281G>C (ACTC1)
ENST00000560563.1:n.90G>C (ACTC1)
NM_005159.4:c.591G>C , LRG_388t1:c.591G>C (ACTC1) NP_005150.1:p.Glu197Asp
NR_120329.1:n.299+15002C>G (GJD2-DT)
NM_005159.5:c.591G>C (ACTC1) MANE Select NP_005150.1:p.Glu197Asp