Canonical Allele Identifier: CA2169208410

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792441G= , CM000677.2:g.34792441G=	GRCh38
NC_000015.9:g.35084642G= , CM000677.1:g.35084642G=	GRCh37
NC_000015.8:g.32871934G=	NCBI36
NG_007553.1:g.8286C= , LRG_388:g.8286C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.689C= (ACTC1)
ENST00000290378.6:c.583C= (ACTC1) MANE Select	ENSP00000290378.4:p.Leu195=
ENST00000647798.1:n.677C= (ACTC1)
ENST00000648556.1:n.740C= (ACTC1)
ENST00000650163.1:n.663C= (ACTC1)
ENST00000290378.4:c.583C= (ACTC1)	ENSP00000290378.4:p.Leu195=
ENST00000557860.1:n.273C= (ACTC1)
ENST00000560563.1:n.82C= (ACTC1)
NM_005159.4:c.583C= , LRG_388t1:c.583C= (ACTC1)	NP_005150.1:p.Leu195=
NR_120329.1:n.299+15010G= (GJD2-DT)
NM_005159.5:c.583C= (ACTC1) MANE Select	NP_005150.1:p.Leu195=