Canonical Allele Identifier: CA2169208788

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792598T= , CM000677.2:g.34792598T=	GRCh38
NC_000015.9:g.35084799T= , CM000677.1:g.35084799T=	GRCh37
NC_000015.8:g.32872091T=	NCBI36
NG_007553.1:g.8129A= , LRG_388:g.8129A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-29A= (ACTC1)
ENST00000290378.6:c.455-29A= (ACTC1) MANE Select	ENSP00000290378.4:n.455-29A=
ENST00000647798.1:n.549-29A= (ACTC1)
ENST00000648556.1:n.612-29A= (ACTC1)
ENST00000650163.1:n.535-29A= (ACTC1)
ENST00000290378.4:c.455-29A= (ACTC1)	ENSP00000290378.4:n.455-29A=
ENST00000557860.1:n.145-29A= (ACTC1)
NM_005159.4:c.455-29A= , LRG_388t1:c.455-29A= (ACTC1)	NP_005150.1:n.455-29A=
NR_120329.1:n.299+15167T= (GJD2-DT)
NM_005159.5:c.455-29A= (ACTC1) MANE Select	NP_005150.1:n.455-29A=