Canonical Allele Identifier: CA2169204996

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790964C= , CM000677.2:g.34790964C=	GRCh38
NC_000015.9:g.35083165C= , CM000677.1:g.35083165C=	GRCh37
NC_000015.8:g.32870457C=	NCBI36
NG_007553.1:g.9763G= , LRG_388:g.9763G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1890+150G= (ACTC1)
ENST00000290378.6:c.990+150G= (ACTC1) MANE Select	ENSP00000290378.4:n.990+150G=
ENST00000647798.1:n.1084+150G= (ACTC1)
ENST00000650163.1:n.1070+150G= (ACTC1)
ENST00000290378.4:c.990+150G= (ACTC1)	ENSP00000290378.4:n.990+150G=
NM_005159.4:c.990+150G= , LRG_388t1:c.990+150G= (ACTC1)	NP_005150.1:n.990+150G=
NR_120329.1:n.299+13533C= (GJD2-DT)
NM_005159.5:c.990+150G= (ACTC1) MANE Select	NP_005150.1:n.990+150G=