Canonical Allele Identifier: CA391629282
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791119T>A , CM000677.2:g.34791119T>A GRCh38
NC_000015.9:g.35083320T>A , CM000677.1:g.35083320T>A GRCh37
NC_000015.8:g.32870612T>A NCBI36
NG_007553.1:g.9608A>T , LRG_388:g.9608A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1885A>T (ACTC1)
ENST00000290378.6:c.985A>T (ACTC1) MANE Select ENSP00000290378.4:p.Ile329Phe
ENST00000647798.1:n.1079A>T (ACTC1)
ENST00000650163.1:n.1065A>T (ACTC1)
ENST00000290378.4:c.985A>T (ACTC1) ENSP00000290378.4:p.Ile329Phe
NM_005159.4:c.985A>T , LRG_388t1:c.985A>T (ACTC1) NP_005150.1:p.Ile329Phe
NR_120329.1:n.299+13688T>A (GJD2-DT)
NM_005159.5:c.985A>T (ACTC1) MANE Select NP_005150.1:p.Ile329Phe