Canonical Allele Identifier: CA2169207429
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792071A= , CM000677.2:g.34792071A= GRCh38
NC_000015.9:g.35084272A= , CM000677.1:g.35084272A= GRCh37
NC_000015.8:g.32871564A= NCBI36
NG_007553.1:g.8656T= , LRG_388:g.8656T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.933T= (ACTC1)
ENST00000290378.6:c.808+19T= (ACTC1) MANE Select ENSP00000290378.4:n.808+19T=
ENST00000647798.1:n.902+19T= (ACTC1)
ENST00000650163.1:n.888+19T= (ACTC1)
ENST00000290378.4:c.808+19T= (ACTC1) ENSP00000290378.4:n.808+19T=
ENST00000557860.1:n.498+19T= (ACTC1)
ENST00000560563.1:n.326T= (ACTC1)
NM_005159.4:c.808+19T= , LRG_388t1:c.808+19T= (ACTC1) NP_005150.1:n.808+19T=
NR_120329.1:n.299+14640A= (GJD2-DT)
NM_005159.5:c.808+19T= (ACTC1) MANE Select NP_005150.1:n.808+19T=
Search 100 bp 5'
Search 100 bp 3'