Canonical Allele Identifier: CA2169212804

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794710G= , CM000677.2:g.34794710G=	GRCh38
NC_000015.9:g.35086911G= , CM000677.1:g.35086911G=	GRCh37
NC_000015.8:g.32874203G=	NCBI36
NG_007553.1:g.6017C= , LRG_388:g.6017C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.205C= (ACTC1)
ENST00000290378.6:c.99C= (ACTC1) MANE Select	ENSP00000290378.4:p.Phe33=
ENST00000290378.4:c.99C= (ACTC1)	ENSP00000290378.4:p.Phe33=
NM_005159.4:c.99C= , LRG_388t1:c.99C= (ACTC1)	NP_005150.1:p.Phe33=
NR_120329.1:n.300-15786G= (GJD2-DT)
NM_005159.5:c.99C= (ACTC1) MANE Select	NP_005150.1:p.Phe33=