Canonical Allele Identifier: CA391631115
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792534T>A , CM000677.2:g.34792534T>A GRCh38
NC_000015.9:g.35084735T>A , CM000677.1:g.35084735T>A GRCh37
NC_000015.8:g.32872027T>A NCBI36
NG_007553.1:g.8193A>T , LRG_388:g.8193A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.596A>T (ACTC1)
ENST00000290378.6:c.490A>T (ACTC1) MANE Select ENSP00000290378.4:p.Asn164Tyr
ENST00000647798.1:n.584A>T (ACTC1)
ENST00000648556.1:n.647A>T (ACTC1)
ENST00000650163.1:n.570A>T (ACTC1)
ENST00000290378.4:c.490A>T (ACTC1) ENSP00000290378.4:p.Asn164Tyr
ENST00000557860.1:n.180A>T (ACTC1)
NM_005159.4:c.490A>T , LRG_388t1:c.490A>T (ACTC1) NP_005150.1:p.Asn164Tyr
NR_120329.1:n.299+15103T>A (GJD2-DT)
NM_005159.5:c.490A>T (ACTC1) MANE Select NP_005150.1:p.Asn164Tyr