Canonical Allele Identifier: CA2169210142

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793290C= , CM000677.2:g.34793290C=	GRCh38
NC_000015.9:g.35085491C= , CM000677.1:g.35085491C=	GRCh37
NC_000015.8:g.32872783C=	NCBI36
NG_007553.1:g.7437G= , LRG_388:g.7437G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.515G= (ACTC1)
ENST00000290378.6:c.409G= (ACTC1) MANE Select	ENSP00000290378.4:p.Ala137=
ENST00000647798.1:n.548+8G= (ACTC1)
ENST00000648556.1:n.566G= (ACTC1)
ENST00000650163.1:n.489G= (ACTC1)
ENST00000290378.4:c.409G= (ACTC1)	ENSP00000290378.4:p.Ala137=
NM_005159.4:c.409G= , LRG_388t1:c.409G= (ACTC1)	NP_005150.1:p.Ala137=
NR_120329.1:n.299+15859C= (GJD2-DT)
NM_005159.5:c.409G= (ACTC1) MANE Select	NP_005150.1:p.Ala137=