Canonical Allele Identifier: CA391629612
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791269T>A , CM000677.2:g.34791269T>A GRCh38
NC_000015.9:g.35083470T>A , CM000677.1:g.35083470T>A GRCh37
NC_000015.8:g.32870762T>A NCBI36
NG_007553.1:g.9458A>T , LRG_388:g.9458A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1735A>T (ACTC1)
ENST00000290378.6:c.835A>T (ACTC1) MANE Select ENSP00000290378.4:p.Thr279Ser
ENST00000647798.1:n.929A>T (ACTC1)
ENST00000650163.1:n.915A>T (ACTC1)
ENST00000290378.4:c.835A>T (ACTC1) ENSP00000290378.4:p.Thr279Ser
ENST00000557860.1:n.525A>T (ACTC1)
NM_005159.4:c.835A>T , LRG_388t1:c.835A>T (ACTC1) NP_005150.1:p.Thr279Ser
NR_120329.1:n.299+13838T>A (GJD2-DT)
NM_005159.5:c.835A>T (ACTC1) MANE Select NP_005150.1:p.Thr279Ser