Canonical Allele Identifier: CA2803722620

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790176A>G , CM000677.2:g.34790176A>G	GRCh38
NC_000015.9:g.35082377A>G , CM000677.1:g.35082377A>G	GRCh37
NC_000015.8:g.32869669A>G	NCBI36
NG_007553.1:g.10551T>C , LRG_388:g.10551T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.2270T>C (ACTC1)
ENST00000290378.4:c.*236T>C (ACTC1)	ENSP00000290378.4:n.*236T>C
NM_005159.4:c.*236T>C , LRG_388t1:c.*236T>C (ACTC1)	NP_005150.1:n.*236T>C
NR_120329.1:n.299+12745A>G (GJD2-DT)