Canonical Allele Identifier: CA2169210527

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793429G= , CM000677.2:g.34793429G=	GRCh38
NC_000015.9:g.35085630G= , CM000677.1:g.35085630G=	GRCh37
NC_000015.8:g.32872922G=	NCBI36
NG_007553.1:g.7298C= , LRG_388:g.7298C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.376C= (ACTC1)
ENST00000290378.6:c.270C= (ACTC1) MANE Select	ENSP00000290378.4:p.His90=
ENST00000647798.1:n.417C= (ACTC1)
ENST00000648556.1:n.427C= (ACTC1)
ENST00000650163.1:n.350C= (ACTC1)
ENST00000290378.4:c.270C= (ACTC1)	ENSP00000290378.4:p.His90=
NM_005159.4:c.270C= , LRG_388t1:c.270C= (ACTC1)	NP_005150.1:p.His90=
NR_120329.1:n.299+15998G= (GJD2-DT)
NM_005159.5:c.270C= (ACTC1) MANE Select	NP_005150.1:p.His90=