Canonical Allele Identifier: CA391631002

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084683T>A (hg19) ; chr15:g.34792482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792482T>A , CM000677.2:g.34792482T>A	GRCh38
NC_000015.9:g.35084683T>A , CM000677.1:g.35084683T>A	GRCh37
NC_000015.8:g.32871975T>A	NCBI36
NG_007553.1:g.8245A>T , LRG_388:g.8245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.648A>T (ACTC1)
ENST00000290378.6:c.542A>T (ACTC1) MANE Select	ENSP00000290378.4:p.Asp181Val
ENST00000647798.1:n.636A>T (ACTC1)
ENST00000648556.1:n.699A>T (ACTC1)
ENST00000650163.1:n.622A>T (ACTC1)
ENST00000290378.4:c.542A>T (ACTC1)	ENSP00000290378.4:p.Asp181Val
ENST00000557860.1:n.232A>T (ACTC1)
ENST00000560563.1:n.41A>T (ACTC1)
NM_005159.4:c.542A>T , LRG_388t1:c.542A>T (ACTC1)	NP_005150.1:p.Asp181Val
NR_120329.1:n.299+15051T>A (GJD2-DT)
NM_005159.5:c.542A>T (ACTC1) MANE Select	NP_005150.1:p.Asp181Val