Canonical Allele Identifier: CA489655421
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084631A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792430A>T , CM000677.2:g.34792430A>T GRCh38
NC_000015.9:g.35084631A>T , CM000677.1:g.35084631A>T GRCh37
NC_000015.8:g.32871923A>T NCBI36
NG_007553.1:g.8297T>A , LRG_388:g.8297T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.700T>A (ACTC1)
ENST00000290378.6:c.594T>A (ACTC1) MANE Select ENSP00000290378.4:p.Arg198=
ENST00000647798.1:n.688T>A (ACTC1)
ENST00000648556.1:n.751T>A (ACTC1)
ENST00000650163.1:n.674T>A (ACTC1)
ENST00000290378.4:c.594T>A (ACTC1) ENSP00000290378.4:p.Arg198=
ENST00000557860.1:n.284T>A (ACTC1)
ENST00000560563.1:n.93T>A (ACTC1)
NM_005159.4:c.594T>A , LRG_388t1:c.594T>A (ACTC1) NP_005150.1:p.Arg198=
NR_120329.1:n.299+14999A>T (GJD2-DT)
NM_005159.5:c.594T>A (ACTC1) MANE Select NP_005150.1:p.Arg198=