Canonical Allele Identifier: CA2169210066

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793261A= , CM000677.2:g.34793261A=	GRCh38
NC_000015.9:g.35085462A= , CM000677.1:g.35085462A=	GRCh37
NC_000015.8:g.32872754A=	NCBI36
NG_007553.1:g.7466T= , LRG_388:g.7466T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.544T= (ACTC1)
ENST00000290378.6:c.438T= (ACTC1) MANE Select	ENSP00000290378.4:p.Ala146=
ENST00000647798.1:n.548+37T= (ACTC1)
ENST00000648556.1:n.595T= (ACTC1)
ENST00000650163.1:n.518T= (ACTC1)
ENST00000290378.4:c.438T= (ACTC1)	ENSP00000290378.4:p.Ala146=
NM_005159.4:c.438T= , LRG_388t1:c.438T= (ACTC1)	NP_005150.1:p.Ala146=
NR_120329.1:n.299+15830A= (GJD2-DT)
NM_005159.5:c.438T= (ACTC1) MANE Select	NP_005150.1:p.Ala146=