Canonical Allele Identifier: CA2169204769

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790811C= , CM000677.2:g.34790811C=	GRCh38
NC_000015.9:g.35083012C= , CM000677.1:g.35083012C=	GRCh37
NC_000015.8:g.32870304C=	NCBI36
NG_007553.1:g.9916G= , LRG_388:g.9916G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-256G= (ACTC1)
ENST00000290378.6:c.991-256G= (ACTC1) MANE Select	ENSP00000290378.4:n.991-256G=
ENST00000647798.1:n.1085-256G= (ACTC1)
ENST00000650163.1:n.1071-256G= (ACTC1)
ENST00000290378.4:c.991-256G= (ACTC1)	ENSP00000290378.4:n.991-256G=
NM_005159.4:c.991-256G= , LRG_388t1:c.991-256G= (ACTC1)	NP_005150.1:n.991-256G=
NR_120329.1:n.299+13380C= (GJD2-DT)
NM_005159.5:c.991-256G= (ACTC1) MANE Select	NP_005150.1:n.991-256G=