Canonical Allele Identifier: CA2169208161

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792325G= , CM000677.2:g.34792325G=	GRCh38
NC_000015.9:g.35084526G= , CM000677.1:g.35084526G=	GRCh37
NC_000015.8:g.32871818G=	NCBI36
NG_007553.1:g.8402C= , LRG_388:g.8402C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-44C= (ACTC1)
ENST00000290378.6:c.617-44C= (ACTC1) MANE Select	ENSP00000290378.4:n.617-44C=
ENST00000647798.1:n.711-44C= (ACTC1)
ENST00000648556.1:n.774-44C= (ACTC1)
ENST00000650163.1:n.697-44C= (ACTC1)
ENST00000290378.4:c.617-44C= (ACTC1)	ENSP00000290378.4:n.617-44C=
ENST00000557860.1:n.307-44C= (ACTC1)
ENST00000560563.1:n.116-44C= (ACTC1)
NM_005159.4:c.617-44C= , LRG_388t1:c.617-44C= (ACTC1)	NP_005150.1:n.617-44C=
NR_120329.1:n.299+14894G= (GJD2-DT)
NM_005159.5:c.617-44C= (ACTC1) MANE Select	NP_005150.1:n.617-44C=