Canonical Allele Identifier: CA2169208121

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792304A= , CM000677.2:g.34792304A=	GRCh38
NC_000015.9:g.35084505A= , CM000677.1:g.35084505A=	GRCh37
NC_000015.8:g.32871797A=	NCBI36
NG_007553.1:g.8423T= , LRG_388:g.8423T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-23T= (ACTC1)
ENST00000290378.6:c.617-23T= (ACTC1) MANE Select	ENSP00000290378.4:n.617-23T=
ENST00000647798.1:n.711-23T= (ACTC1)
ENST00000648556.1:n.774-23T= (ACTC1)
ENST00000650163.1:n.697-23T= (ACTC1)
ENST00000290378.4:c.617-23T= (ACTC1)	ENSP00000290378.4:n.617-23T=
ENST00000557860.1:n.307-23T= (ACTC1)
ENST00000560563.1:n.116-23T= (ACTC1)
NM_005159.4:c.617-23T= , LRG_388t1:c.617-23T= (ACTC1)	NP_005150.1:n.617-23T=
NR_120329.1:n.299+14873A= (GJD2-DT)
NM_005159.5:c.617-23T= (ACTC1) MANE Select	NP_005150.1:n.617-23T=