Canonical Allele Identifier: CA2169200092

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788643T= , CM000677.2:g.34788643T=	GRCh38
NC_000015.9:g.35080844T= , CM000677.1:g.35080844T=	GRCh37
NC_000015.8:g.32868136T=	NCBI36
NG_007553.1:g.12084A= , LRG_388:g.12084A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*1769A= (ACTC1)	ENSP00000290378.4:n.*1769A=
NM_005159.4:c.*1769A= , LRG_388t1:c.*1769A= (ACTC1)	NP_005150.1:n.*1769A=
NR_120329.1:n.299+11212T= (GJD2-DT)