Canonical Allele Identifier: CA2169210085

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793273T= , CM000677.2:g.34793273T=	GRCh38
NC_000015.9:g.35085474T= , CM000677.1:g.35085474T=	GRCh37
NC_000015.8:g.32872766T=	NCBI36
NG_007553.1:g.7454A= , LRG_388:g.7454A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.532A= (ACTC1)
ENST00000290378.6:c.426A= (ACTC1) MANE Select	ENSP00000290378.4:p.Leu142=
ENST00000647798.1:n.548+25A= (ACTC1)
ENST00000648556.1:n.583A= (ACTC1)
ENST00000650163.1:n.506A= (ACTC1)
ENST00000290378.4:c.426A= (ACTC1)	ENSP00000290378.4:p.Leu142=
NM_005159.4:c.426A= , LRG_388t1:c.426A= (ACTC1)	NP_005150.1:p.Leu142=
NR_120329.1:n.299+15842T= (GJD2-DT)
NM_005159.5:c.426A= (ACTC1) MANE Select	NP_005150.1:p.Leu142=