Canonical Allele Identifier: CA2169203546

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790245G= , CM000677.2:g.34790245G=	GRCh38
NC_000015.9:g.35082446G= , CM000677.1:g.35082446G=	GRCh37
NC_000015.8:g.32869738G=	NCBI36
NG_007553.1:g.10482C= , LRG_388:g.10482C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2201C= (ACTC1)
ENST00000290378.6:c.*167C= (ACTC1) MANE Select	ENSP00000290378.4:n.*167C=
ENST00000647798.1:n.1395C= (ACTC1)
ENST00000650163.1:n.1381C= (ACTC1)
ENST00000290378.4:c.*167C= (ACTC1)	ENSP00000290378.4:n.*167C=
NM_005159.4:c.*167C= , LRG_388t1:c.*167C= (ACTC1)	NP_005150.1:n.*167C=
NR_120329.1:n.299+12814G= (GJD2-DT)
NM_005159.5:c.*167C= (ACTC1) MANE Select	NP_005150.1:n.*167C=