Canonical Allele Identifier: CA2169203865

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790376A= , CM000677.2:g.34790376A=	GRCh38
NC_000015.9:g.35082577A= , CM000677.1:g.35082577A=	GRCh37
NC_000015.8:g.32869869A=	NCBI36
NG_007553.1:g.10351T= , LRG_388:g.10351T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2070T= (ACTC1)
ENST00000290378.6:c.*36T= (ACTC1) MANE Select	ENSP00000290378.4:n.*36T=
ENST00000647798.1:n.1264T= (ACTC1)
ENST00000650163.1:n.1250T= (ACTC1)
ENST00000290378.4:c.*36T= (ACTC1)	ENSP00000290378.4:n.*36T=
NM_005159.4:c.*36T= , LRG_388t1:c.*36T= (ACTC1)	NP_005150.1:n.*36T=
NR_120329.1:n.299+12945A= (GJD2-DT)
NM_005159.5:c.*36T= (ACTC1) MANE Select	NP_005150.1:n.*36T=