Canonical Allele Identifier: CA2169210423

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793396C= , CM000677.2:g.34793396C=	GRCh38
NC_000015.9:g.35085597C= , CM000677.1:g.35085597C=	GRCh37
NC_000015.8:g.32872889C=	NCBI36
NG_007553.1:g.7331G= , LRG_388:g.7331G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.409G= (ACTC1)
ENST00000290378.6:c.303G= (ACTC1) MANE Select	ENSP00000290378.4:p.Glu101=
ENST00000647798.1:n.450G= (ACTC1)
ENST00000648556.1:n.460G= (ACTC1)
ENST00000650163.1:n.383G= (ACTC1)
ENST00000290378.4:c.303G= (ACTC1)	ENSP00000290378.4:p.Glu101=
NM_005159.4:c.303G= , LRG_388t1:c.303G= (ACTC1)	NP_005150.1:p.Glu101=
NR_120329.1:n.299+15965C= (GJD2-DT)
NM_005159.5:c.303G= (ACTC1) MANE Select	NP_005150.1:p.Glu101=