Canonical Allele Identifier: CA391631972
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793499A>C , CM000677.2:g.34793499A>C GRCh38
NC_000015.9:g.35085700A>C , CM000677.1:g.35085700A>C GRCh37
NC_000015.8:g.32872992A>C NCBI36
NG_007553.1:g.7228T>G , LRG_388:g.7228T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.306T>G (ACTC1)
ENST00000290378.6:c.200T>G (ACTC1) MANE Select ENSP00000290378.4:p.Leu67Arg
ENST00000647798.1:n.347T>G (ACTC1)
ENST00000648556.1:n.357T>G (ACTC1)
ENST00000650163.1:n.280T>G (ACTC1)
ENST00000290378.4:c.200T>G (ACTC1) ENSP00000290378.4:p.Leu67Arg
NM_005159.4:c.200T>G , LRG_388t1:c.200T>G (ACTC1) NP_005150.1:p.Leu67Arg
NR_120329.1:n.299+16068A>C (GJD2-DT)
NM_005159.5:c.200T>G (ACTC1) MANE Select NP_005150.1:p.Leu67Arg