Canonical Allele Identifier: CA489419479
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084301G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792100G>T , CM000677.2:g.34792100G>T GRCh38
NC_000015.9:g.35084301G>T , CM000677.1:g.35084301G>T GRCh37
NC_000015.8:g.32871593G>T NCBI36
NG_007553.1:g.8627C>A , LRG_388:g.8627C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.904C>A (ACTC1)
ENST00000290378.6:c.798C>A (ACTC1) MANE Select ENSP00000290378.4:p.Pro266=
ENST00000647798.1:n.892C>A (ACTC1)
ENST00000650163.1:n.878C>A (ACTC1)
ENST00000290378.4:c.798C>A (ACTC1) ENSP00000290378.4:p.Pro266=
ENST00000557860.1:n.488C>A (ACTC1)
ENST00000560563.1:n.297C>A (ACTC1)
NM_005159.4:c.798C>A , LRG_388t1:c.798C>A (ACTC1) NP_005150.1:p.Pro266=
NR_120329.1:n.299+14669G>T (GJD2-DT)
NM_005159.5:c.798C>A (ACTC1) MANE Select NP_005150.1:p.Pro266=