Canonical Allele Identifier: CA391631080

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084719T>A (hg19) ; chr15:g.34792518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792518T>A , CM000677.2:g.34792518T>A	GRCh38
NC_000015.9:g.35084719T>A , CM000677.1:g.35084719T>A	GRCh37
NC_000015.8:g.32872011T>A	NCBI36
NG_007553.1:g.8209A>T , LRG_388:g.8209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.612A>T (ACTC1)
ENST00000290378.6:c.506A>T (ACTC1) MANE Select	ENSP00000290378.4:p.Glu169Val
ENST00000647798.1:n.600A>T (ACTC1)
ENST00000648556.1:n.663A>T (ACTC1)
ENST00000650163.1:n.586A>T (ACTC1)
ENST00000290378.4:c.506A>T (ACTC1)	ENSP00000290378.4:p.Glu169Val
ENST00000557860.1:n.196A>T (ACTC1)
ENST00000560563.1:n.5A>T (ACTC1)
NM_005159.4:c.506A>T , LRG_388t1:c.506A>T (ACTC1)	NP_005150.1:p.Glu169Val
NR_120329.1:n.299+15087T>A (GJD2-DT)
NM_005159.5:c.506A>T (ACTC1) MANE Select	NP_005150.1:p.Glu169Val