Canonical Allele Identifier: CA2169210966

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793586T= , CM000677.2:g.34793586T=	GRCh38
NC_000015.9:g.35085787T= , CM000677.1:g.35085787T=	GRCh37
NC_000015.8:g.32873079T=	NCBI36
NG_007553.1:g.7141A= , LRG_388:g.7141A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-17A= (ACTC1)
ENST00000290378.6:c.130-17A= (ACTC1) MANE Select	ENSP00000290378.4:n.130-17A=
ENST00000647798.1:n.277-17A= (ACTC1)
ENST00000648556.1:n.287-17A= (ACTC1)
ENST00000650163.1:n.210-17A= (ACTC1)
ENST00000290378.4:c.130-17A= (ACTC1)	ENSP00000290378.4:n.130-17A=
NM_005159.4:c.130-17A= , LRG_388t1:c.130-17A= (ACTC1)	NP_005150.1:n.130-17A=
NR_120329.1:n.299+16155T= (GJD2-DT)
NM_005159.5:c.130-17A= (ACTC1) MANE Select	NP_005150.1:n.130-17A=