Canonical Allele Identifier: CA2169208164

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792327C= , CM000677.2:g.34792327C=	GRCh38
NC_000015.9:g.35084528C= , CM000677.1:g.35084528C=	GRCh37
NC_000015.8:g.32871820C=	NCBI36
NG_007553.1:g.8400G= , LRG_388:g.8400G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-46G= (ACTC1)
ENST00000290378.6:c.617-46G= (ACTC1) MANE Select	ENSP00000290378.4:n.617-46G=
ENST00000647798.1:n.711-46G= (ACTC1)
ENST00000648556.1:n.774-46G= (ACTC1)
ENST00000650163.1:n.697-46G= (ACTC1)
ENST00000290378.4:c.617-46G= (ACTC1)	ENSP00000290378.4:n.617-46G=
ENST00000557860.1:n.307-46G= (ACTC1)
ENST00000560563.1:n.116-46G= (ACTC1)
NM_005159.4:c.617-46G= , LRG_388t1:c.617-46G= (ACTC1)	NP_005150.1:n.617-46G=
NR_120329.1:n.299+14896C= (GJD2-DT)
NM_005159.5:c.617-46G= (ACTC1) MANE Select	NP_005150.1:n.617-46G=