Canonical Allele Identifier: CA2169203822

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790356C= , CM000677.2:g.34790356C=	GRCh38
NC_000015.9:g.35082557C= , CM000677.1:g.35082557C=	GRCh37
NC_000015.8:g.32869849C=	NCBI36
NG_007553.1:g.10371G= , LRG_388:g.10371G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2090G= (ACTC1)
ENST00000290378.6:c.*56G= (ACTC1) MANE Select	ENSP00000290378.4:n.*56G=
ENST00000647798.1:n.1284G= (ACTC1)
ENST00000650163.1:n.1270G= (ACTC1)
ENST00000290378.4:c.*56G= (ACTC1)	ENSP00000290378.4:n.*56G=
NM_005159.4:c.*56G= , LRG_388t1:c.*56G= (ACTC1)	NP_005150.1:n.*56G=
NR_120329.1:n.299+12925C= (GJD2-DT)
NM_005159.5:c.*56G= (ACTC1) MANE Select	NP_005150.1:n.*56G=