Canonical Allele Identifier: CA2169206533

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791475T= , CM000677.2:g.34791475T=	GRCh38
NC_000015.9:g.35083676T= , CM000677.1:g.35083676T=	GRCh37
NC_000015.8:g.32870968T=	NCBI36
NG_007553.1:g.9252A= , LRG_388:g.9252A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1529A= (ACTC1)
ENST00000290378.6:c.809-180A= (ACTC1) MANE Select	ENSP00000290378.4:n.809-180A=
ENST00000647798.1:n.903-180A= (ACTC1)
ENST00000650163.1:n.889-180A= (ACTC1)
ENST00000290378.4:c.809-180A= (ACTC1)	ENSP00000290378.4:n.809-180A=
ENST00000557860.1:n.499-180A= (ACTC1)
NM_005159.4:c.809-180A= , LRG_388t1:c.809-180A= (ACTC1)	NP_005150.1:n.809-180A=
NR_120329.1:n.299+14044T= (GJD2-DT)
NM_005159.5:c.809-180A= (ACTC1) MANE Select	NP_005150.1:n.809-180A=