Canonical Allele Identifier: CA2169209863

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793119C= , CM000677.2:g.34793119C=	GRCh38
NC_000015.9:g.35085320C= , CM000677.1:g.35085320C=	GRCh37
NC_000015.8:g.32872612C=	NCBI36
NG_007553.1:g.7608G= , LRG_388:g.7608G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+126G= (ACTC1)
ENST00000290378.6:c.454+126G= (ACTC1) MANE Select	ENSP00000290378.4:n.454+126G=
ENST00000647798.1:n.548+179G= (ACTC1)
ENST00000648556.1:n.611+126G= (ACTC1)
ENST00000650163.1:n.534+126G= (ACTC1)
ENST00000290378.4:c.454+126G= (ACTC1)	ENSP00000290378.4:n.454+126G=
NM_005159.4:c.454+126G= , LRG_388t1:c.454+126G= (ACTC1)	NP_005150.1:n.454+126G=
NR_120329.1:n.299+15688C= (GJD2-DT)
NM_005159.5:c.454+126G= (ACTC1) MANE Select	NP_005150.1:n.454+126G=