Canonical Allele Identifier: CA2169200177

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788662A= , CM000677.2:g.34788662A=	GRCh38
NC_000015.9:g.35080863A= , CM000677.1:g.35080863A=	GRCh37
NC_000015.8:g.32868155A=	NCBI36
NG_007553.1:g.12065T= , LRG_388:g.12065T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*1750T= (ACTC1)	ENSP00000290378.4:n.*1750T=
NM_005159.4:c.*1750T= , LRG_388t1:c.*1750T= (ACTC1)	NP_005150.1:n.*1750T=
NR_120329.1:n.299+11231A= (GJD2-DT)