Canonical Allele Identifier: CA2169208480

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792465G= , CM000677.2:g.34792465G=	GRCh38
NC_000015.9:g.35084666G= , CM000677.1:g.35084666G=	GRCh37
NC_000015.8:g.32871958G=	NCBI36
NG_007553.1:g.8262C= , LRG_388:g.8262C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.665C= (ACTC1)
ENST00000290378.6:c.559C= (ACTC1) MANE Select	ENSP00000290378.4:p.Leu187=
ENST00000647798.1:n.653C= (ACTC1)
ENST00000648556.1:n.716C= (ACTC1)
ENST00000650163.1:n.639C= (ACTC1)
ENST00000290378.4:c.559C= (ACTC1)	ENSP00000290378.4:p.Leu187=
ENST00000557860.1:n.249C= (ACTC1)
ENST00000560563.1:n.58C= (ACTC1)
NM_005159.4:c.559C= , LRG_388t1:c.559C= (ACTC1)	NP_005150.1:p.Leu187=
NR_120329.1:n.299+15034G= (GJD2-DT)
NM_005159.5:c.559C= (ACTC1) MANE Select	NP_005150.1:p.Leu187=