Canonical Allele Identifier: CA2627662956

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792648-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792648C>A , CM000677.2:g.34792648C>A	GRCh38
NC_000015.9:g.35084849C>A , CM000677.1:g.35084849C>A	GRCh37
NC_000015.8:g.32872141C>A	NCBI36
NG_007553.1:g.8079G>T , LRG_388:g.8079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-79G>T (ACTC1)
ENST00000290378.6:c.455-79G>T (ACTC1) MANE Select	ENSP00000290378.4:n.455-79G>T
ENST00000647798.1:n.549-79G>T (ACTC1)
ENST00000648556.1:n.612-79G>T (ACTC1)
ENST00000650163.1:n.535-79G>T (ACTC1)
ENST00000290378.4:c.455-79G>T (ACTC1)	ENSP00000290378.4:n.455-79G>T
ENST00000557860.1:n.144+60G>T (ACTC1)
NM_005159.4:c.455-79G>T , LRG_388t1:c.455-79G>T (ACTC1)	NP_005150.1:n.455-79G>T
NR_120329.1:n.299+15217C>A (GJD2-DT)
NM_005159.5:c.455-79G>T (ACTC1) MANE Select	NP_005150.1:n.455-79G>T