Canonical Allele Identifier: CA2169208969

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792661G= , CM000677.2:g.34792661G=	GRCh38
NC_000015.9:g.35084862G= , CM000677.1:g.35084862G=	GRCh37
NC_000015.8:g.32872154G=	NCBI36
NG_007553.1:g.8066C= , LRG_388:g.8066C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-92C= (ACTC1)
ENST00000290378.6:c.455-92C= (ACTC1) MANE Select	ENSP00000290378.4:n.455-92C=
ENST00000647798.1:n.549-92C= (ACTC1)
ENST00000648556.1:n.612-92C= (ACTC1)
ENST00000650163.1:n.535-92C= (ACTC1)
ENST00000290378.4:c.455-92C= (ACTC1)	ENSP00000290378.4:n.455-92C=
ENST00000557860.1:n.144+47C= (ACTC1)
NM_005159.4:c.455-92C= , LRG_388t1:c.455-92C= (ACTC1)	NP_005150.1:n.455-92C=
NR_120329.1:n.299+15230G= (GJD2-DT)
NM_005159.5:c.455-92C= (ACTC1) MANE Select	NP_005150.1:n.455-92C=