Canonical Allele Identifier: CA2169207592

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792139G= , CM000677.2:g.34792139G=	GRCh38
NC_000015.9:g.35084340G= , CM000677.1:g.35084340G=	GRCh37
NC_000015.8:g.32871632G=	NCBI36
NG_007553.1:g.8588C= , LRG_388:g.8588C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.865C= (ACTC1)
ENST00000290378.6:c.759C= (ACTC1) MANE Select	ENSP00000290378.4:p.Gly253=
ENST00000647798.1:n.853C= (ACTC1)
ENST00000650163.1:n.839C= (ACTC1)
ENST00000290378.4:c.759C= (ACTC1)	ENSP00000290378.4:p.Gly253=
ENST00000557860.1:n.449C= (ACTC1)
ENST00000560563.1:n.258C= (ACTC1)
NM_005159.4:c.759C= , LRG_388t1:c.759C= (ACTC1)	NP_005150.1:p.Gly253=
NR_120329.1:n.299+14708G= (GJD2-DT)
NM_005159.5:c.759C= (ACTC1) MANE Select	NP_005150.1:p.Gly253=