Canonical Allele Identifier: CA2169210636

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793465G= , CM000677.2:g.34793465G=	GRCh38
NC_000015.9:g.35085666G= , CM000677.1:g.35085666G=	GRCh37
NC_000015.8:g.32872958G=	NCBI36
NG_007553.1:g.7262C= , LRG_388:g.7262C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.340C= (ACTC1)
ENST00000290378.6:c.234C= (ACTC1) MANE Select	ENSP00000290378.4:p.Ile78=
ENST00000647798.1:n.381C= (ACTC1)
ENST00000648556.1:n.391C= (ACTC1)
ENST00000650163.1:n.314C= (ACTC1)
ENST00000290378.4:c.234C= (ACTC1)	ENSP00000290378.4:p.Ile78=
NM_005159.4:c.234C= , LRG_388t1:c.234C= (ACTC1)	NP_005150.1:p.Ile78=
NR_120329.1:n.299+16034G= (GJD2-DT)
NM_005159.5:c.234C= (ACTC1) MANE Select	NP_005150.1:p.Ile78=