Canonical Allele Identifier: CA391632225
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793551C>A , CM000677.2:g.34793551C>A GRCh38
NC_000015.9:g.35085752C>A , CM000677.1:g.35085752C>A GRCh37
NC_000015.8:g.32873044C>A NCBI36
NG_007553.1:g.7176G>T , LRG_388:g.7176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.254G>T (ACTC1)
ENST00000290378.6:c.148G>T (ACTC1) MANE Select ENSP00000290378.4:p.Gly50Cys
ENST00000647798.1:n.295G>T (ACTC1)
ENST00000648556.1:n.305G>T (ACTC1)
ENST00000650163.1:n.228G>T (ACTC1)
ENST00000290378.4:c.148G>T (ACTC1) ENSP00000290378.4:p.Gly50Cys
NM_005159.4:c.148G>T , LRG_388t1:c.148G>T (ACTC1) NP_005150.1:p.Gly50Cys
NR_120329.1:n.299+16120C>A (GJD2-DT)
NM_005159.5:c.148G>T (ACTC1) MANE Select NP_005150.1:p.Gly50Cys