Canonical Allele Identifier: CA2169210906

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793567T= , CM000677.2:g.34793567T=	GRCh38
NC_000015.9:g.35085768T= , CM000677.1:g.35085768T=	GRCh37
NC_000015.8:g.32873060T=	NCBI36
NG_007553.1:g.7160A= , LRG_388:g.7160A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.238A= (ACTC1)
ENST00000290378.6:c.132A= (ACTC1) MANE Select	ENSP00000290378.4:p.Gly44=
ENST00000647798.1:n.279A= (ACTC1)
ENST00000648556.1:n.289A= (ACTC1)
ENST00000650163.1:n.212A= (ACTC1)
ENST00000290378.4:c.132A= (ACTC1)	ENSP00000290378.4:p.Gly44=
NM_005159.4:c.132A= , LRG_388t1:c.132A= (ACTC1)	NP_005150.1:p.Gly44=
NR_120329.1:n.299+16136T= (GJD2-DT)
NM_005159.5:c.132A= (ACTC1) MANE Select	NP_005150.1:p.Gly44=