Canonical Allele Identifier: CA2169207926

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792250C= , CM000677.2:g.34792250C=	GRCh38
NC_000015.9:g.35084451C= , CM000677.1:g.35084451C=	GRCh37
NC_000015.8:g.32871743C=	NCBI36
NG_007553.1:g.8477G= , LRG_388:g.8477G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.754G= (ACTC1)
ENST00000290378.6:c.648G= (ACTC1) MANE Select	ENSP00000290378.4:p.Glu216=
ENST00000647798.1:n.742G= (ACTC1)
ENST00000648556.1:n.805G= (ACTC1)
ENST00000650163.1:n.728G= (ACTC1)
ENST00000290378.4:c.648G= (ACTC1)	ENSP00000290378.4:p.Glu216=
ENST00000557860.1:n.338G= (ACTC1)
ENST00000560563.1:n.147G= (ACTC1)
NM_005159.4:c.648G= , LRG_388t1:c.648G= (ACTC1)	NP_005150.1:p.Glu216=
NR_120329.1:n.299+14819C= (GJD2-DT)
NM_005159.5:c.648G= (ACTC1) MANE Select	NP_005150.1:p.Glu216=