Canonical Allele Identifier: CA391631121
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792536T>C , CM000677.2:g.34792536T>C GRCh38
NC_000015.9:g.35084737T>C , CM000677.1:g.35084737T>C GRCh37
NC_000015.8:g.32872029T>C NCBI36
NG_007553.1:g.8191A>G , LRG_388:g.8191A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.594A>G (ACTC1)
ENST00000290378.6:c.488A>G (ACTC1) MANE Select ENSP00000290378.4:p.His163Arg
ENST00000647798.1:n.582A>G (ACTC1)
ENST00000648556.1:n.645A>G (ACTC1)
ENST00000650163.1:n.568A>G (ACTC1)
ENST00000290378.4:c.488A>G (ACTC1) ENSP00000290378.4:p.His163Arg
ENST00000557860.1:n.178A>G (ACTC1)
NM_005159.4:c.488A>G , LRG_388t1:c.488A>G (ACTC1) NP_005150.1:p.His163Arg
NR_120329.1:n.299+15105T>C (GJD2-DT)
NM_005159.5:c.488A>G (ACTC1) MANE Select NP_005150.1:p.His163Arg