Canonical Allele Identifier: CA2169208000

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792263C= , CM000677.2:g.34792263C=	GRCh38
NC_000015.9:g.35084464C= , CM000677.1:g.35084464C=	GRCh37
NC_000015.8:g.32871756C=	NCBI36
NG_007553.1:g.8464G= , LRG_388:g.8464G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.741G= (ACTC1)
ENST00000290378.6:c.635G= (ACTC1) MANE Select	ENSP00000290378.4:p.Arg212=
ENST00000647798.1:n.729G= (ACTC1)
ENST00000648556.1:n.792G= (ACTC1)
ENST00000650163.1:n.715G= (ACTC1)
ENST00000290378.4:c.635G= (ACTC1)	ENSP00000290378.4:p.Arg212=
ENST00000557860.1:n.325G= (ACTC1)
ENST00000560563.1:n.134G= (ACTC1)
NM_005159.4:c.635G= , LRG_388t1:c.635G= (ACTC1)	NP_005150.1:p.Arg212=
NR_120329.1:n.299+14832C= (GJD2-DT)
NM_005159.5:c.635G= (ACTC1) MANE Select	NP_005150.1:p.Arg212=