Canonical Allele Identifier: CA2169212292

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794436A= , CM000677.2:g.34794436A=	GRCh38
NC_000015.9:g.35086637A= , CM000677.1:g.35086637A=	GRCh37
NC_000015.8:g.32873929A=	NCBI36
NG_007553.1:g.6291T= , LRG_388:g.6291T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.235+244T= (ACTC1)
ENST00000290378.6:c.129+244T= (ACTC1) MANE Select	ENSP00000290378.4:n.129+244T=
ENST00000290378.4:c.129+244T= (ACTC1)	ENSP00000290378.4:n.129+244T=
NM_005159.4:c.129+244T= , LRG_388t1:c.129+244T= (ACTC1)	NP_005150.1:n.129+244T=
NR_120329.1:n.300-16060A= (GJD2-DT)
NM_005159.5:c.129+244T= (ACTC1) MANE Select	NP_005150.1:n.129+244T=