Canonical Allele Identifier: CA2575670209

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792663G>T , CM000677.2:g.34792663G>T	GRCh38
NC_000015.9:g.35084864G>T , CM000677.1:g.35084864G>T	GRCh37
NC_000015.8:g.32872156G>T	NCBI36
NG_007553.1:g.8064C>A , LRG_388:g.8064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-94C>A (ACTC1)
ENST00000290378.6:c.455-94C>A (ACTC1) MANE Select	ENSP00000290378.4:n.455-94C>A
ENST00000647798.1:n.549-94C>A (ACTC1)
ENST00000648556.1:n.612-94C>A (ACTC1)
ENST00000650163.1:n.535-94C>A (ACTC1)
ENST00000290378.4:c.455-94C>A (ACTC1)	ENSP00000290378.4:n.455-94C>A
ENST00000557860.1:n.144+45C>A (ACTC1)
NM_005159.4:c.455-94C>A , LRG_388t1:c.455-94C>A (ACTC1)	NP_005150.1:n.455-94C>A
NR_120329.1:n.299+15232G>T (GJD2-DT)
NM_005159.5:c.455-94C>A (ACTC1) MANE Select	NP_005150.1:n.455-94C>A