Canonical Allele Identifier: CA391628993
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790492A>C , CM000677.2:g.34790492A>C GRCh38
NC_000015.9:g.35082693A>C , CM000677.1:g.35082693A>C GRCh37
NC_000015.8:g.32869985A>C NCBI36
NG_007553.1:g.10235T>G , LRG_388:g.10235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1954T>G (ACTC1)
ENST00000290378.6:c.1054T>G (ACTC1) MANE Select ENSP00000290378.4:p.Ser352Ala
ENST00000647798.1:n.1148T>G (ACTC1)
ENST00000650163.1:n.1134T>G (ACTC1)
ENST00000290378.4:c.1054T>G (ACTC1) ENSP00000290378.4:p.Ser352Ala
NM_005159.4:c.1054T>G , LRG_388t1:c.1054T>G (ACTC1) NP_005150.1:p.Ser352Ala
NR_120329.1:n.299+13061A>C (GJD2-DT)
NM_005159.5:c.1054T>G (ACTC1) MANE Select NP_005150.1:p.Ser352Ala