Canonical Allele Identifier: CA2575670206

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792654T>C , CM000677.2:g.34792654T>C	GRCh38
NC_000015.9:g.35084855T>C , CM000677.1:g.35084855T>C	GRCh37
NC_000015.8:g.32872147T>C	NCBI36
NG_007553.1:g.8073A>G , LRG_388:g.8073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-85A>G (ACTC1)
ENST00000290378.6:c.455-85A>G (ACTC1) MANE Select	ENSP00000290378.4:n.455-85A>G
ENST00000647798.1:n.549-85A>G (ACTC1)
ENST00000648556.1:n.612-85A>G (ACTC1)
ENST00000650163.1:n.535-85A>G (ACTC1)
ENST00000290378.4:c.455-85A>G (ACTC1)	ENSP00000290378.4:n.455-85A>G
ENST00000557860.1:n.144+54A>G (ACTC1)
NM_005159.4:c.455-85A>G , LRG_388t1:c.455-85A>G (ACTC1)	NP_005150.1:n.455-85A>G
NR_120329.1:n.299+15223T>C (GJD2-DT)
NM_005159.5:c.455-85A>G (ACTC1) MANE Select	NP_005150.1:n.455-85A>G