Canonical Allele Identifier: CA2169208076

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792276G= , CM000677.2:g.34792276G=	GRCh38
NC_000015.9:g.35084477G= , CM000677.1:g.35084477G=	GRCh37
NC_000015.8:g.32871769G=	NCBI36
NG_007553.1:g.8451C= , LRG_388:g.8451C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.728C= (ACTC1)
ENST00000290378.6:c.622C= (ACTC1) MANE Select	ENSP00000290378.4:p.Arg208=
ENST00000647798.1:n.716C= (ACTC1)
ENST00000648556.1:n.779C= (ACTC1)
ENST00000650163.1:n.702C= (ACTC1)
ENST00000290378.4:c.622C= (ACTC1)	ENSP00000290378.4:p.Arg208=
ENST00000557860.1:n.312C= (ACTC1)
ENST00000560563.1:n.121C= (ACTC1)
NM_005159.4:c.622C= , LRG_388t1:c.622C= (ACTC1)	NP_005150.1:p.Arg208=
NR_120329.1:n.299+14845G= (GJD2-DT)
NM_005159.5:c.622C= (ACTC1) MANE Select	NP_005150.1:p.Arg208=