Canonical Allele Identifier: CA2169204593

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790672G= , CM000677.2:g.34790672G=	GRCh38
NC_000015.9:g.35082873G= , CM000677.1:g.35082873G=	GRCh37
NC_000015.8:g.32870165G=	NCBI36
NG_007553.1:g.10055C= , LRG_388:g.10055C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-117C= (ACTC1)
ENST00000290378.6:c.991-117C= (ACTC1) MANE Select	ENSP00000290378.4:n.991-117C=
ENST00000647798.1:n.1085-117C= (ACTC1)
ENST00000650163.1:n.1071-117C= (ACTC1)
ENST00000290378.4:c.991-117C= (ACTC1)	ENSP00000290378.4:n.991-117C=
NM_005159.4:c.991-117C= , LRG_388t1:c.991-117C= (ACTC1)	NP_005150.1:n.991-117C=
NR_120329.1:n.299+13241G= (GJD2-DT)
NM_005159.5:c.991-117C= (ACTC1) MANE Select	NP_005150.1:n.991-117C=