Canonical Allele Identifier: CA2627662933

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792582-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792582G>A , CM000677.2:g.34792582G>A	GRCh38
NC_000015.9:g.35084783G>A , CM000677.1:g.35084783G>A	GRCh37
NC_000015.8:g.32872075G>A	NCBI36
NG_007553.1:g.8145C>T , LRG_388:g.8145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-13C>T (ACTC1)
ENST00000290378.6:c.455-13C>T (ACTC1) MANE Select	ENSP00000290378.4:n.455-13C>T
ENST00000647798.1:n.549-13C>T (ACTC1)
ENST00000648556.1:n.612-13C>T (ACTC1)
ENST00000650163.1:n.535-13C>T (ACTC1)
ENST00000290378.4:c.455-13C>T (ACTC1)	ENSP00000290378.4:n.455-13C>T
ENST00000557860.1:n.145-13C>T (ACTC1)
NM_005159.4:c.455-13C>T , LRG_388t1:c.455-13C>T (ACTC1)	NP_005150.1:n.455-13C>T
NR_120329.1:n.299+15151G>A (GJD2-DT)
NM_005159.5:c.455-13C>T (ACTC1) MANE Select	NP_005150.1:n.455-13C>T