Canonical Allele Identifier: CA2950859279

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791995A>G , CM000677.2:g.34791995A>G	GRCh38
NC_000015.9:g.35084196A>G , CM000677.1:g.35084196A>G	GRCh37
NC_000015.8:g.32871488A>G	NCBI36
NG_007553.1:g.8732T>C , LRG_388:g.8732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1009T>C (ACTC1)
ENST00000290378.6:c.808+95T>C (ACTC1) MANE Select	ENSP00000290378.4:n.808+95T>C
ENST00000647798.1:n.902+95T>C (ACTC1)
ENST00000650163.1:n.888+95T>C (ACTC1)
ENST00000290378.4:c.808+95T>C (ACTC1)	ENSP00000290378.4:n.808+95T>C
ENST00000557860.1:n.498+95T>C (ACTC1)
ENST00000560563.1:n.402T>C (ACTC1)
NM_005159.4:c.808+95T>C , LRG_388t1:c.808+95T>C (ACTC1)	NP_005150.1:n.808+95T>C
NR_120329.1:n.299+14564A>G (GJD2-DT)
NM_005159.5:c.808+95T>C (ACTC1) MANE Select	NP_005150.1:n.808+95T>C