Canonical Allele Identifier: CA2169210869

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793541T= , CM000677.2:g.34793541T=	GRCh38
NC_000015.9:g.35085742T= , CM000677.1:g.35085742T=	GRCh37
NC_000015.8:g.32873034T=	NCBI36
NG_007553.1:g.7186A= , LRG_388:g.7186A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.264A= (ACTC1)
ENST00000290378.6:c.158A= (ACTC1) MANE Select	ENSP00000290378.4:p.Asp53=
ENST00000647798.1:n.305A= (ACTC1)
ENST00000648556.1:n.315A= (ACTC1)
ENST00000650163.1:n.238A= (ACTC1)
ENST00000290378.4:c.158A= (ACTC1)	ENSP00000290378.4:p.Asp53=
NM_005159.4:c.158A= , LRG_388t1:c.158A= (ACTC1)	NP_005150.1:p.Asp53=
NR_120329.1:n.299+16110T= (GJD2-DT)
NM_005159.5:c.158A= (ACTC1) MANE Select	NP_005150.1:p.Asp53=