Canonical Allele Identifier: CA2575670096

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790355T>G , CM000677.2:g.34790355T>G	GRCh38
NC_000015.9:g.35082556T>G , CM000677.1:g.35082556T>G	GRCh37
NC_000015.8:g.32869848T>G	NCBI36
NG_007553.1:g.10372A>C , LRG_388:g.10372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2091A>C (ACTC1)
ENST00000290378.6:c.*57A>C (ACTC1) MANE Select	ENSP00000290378.4:n.*57A>C
ENST00000647798.1:n.1285A>C (ACTC1)
ENST00000650163.1:n.1271A>C (ACTC1)
ENST00000290378.4:c.*57A>C (ACTC1)	ENSP00000290378.4:n.*57A>C
NM_005159.4:c.*57A>C , LRG_388t1:c.*57A>C (ACTC1)	NP_005150.1:n.*57A>C
NR_120329.1:n.299+12924T>G (GJD2-DT)
NM_005159.5:c.*57A>C (ACTC1) MANE Select	NP_005150.1:n.*57A>C