Canonical Allele Identifier: CA2169207615

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792145A= , CM000677.2:g.34792145A=	GRCh38
NC_000015.9:g.35084346A= , CM000677.1:g.35084346A=	GRCh37
NC_000015.8:g.32871638A=	NCBI36
NG_007553.1:g.8582T= , LRG_388:g.8582T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.859T= (ACTC1)
ENST00000290378.6:c.753T= (ACTC1) MANE Select	ENSP00000290378.4:p.Thr251=
ENST00000647798.1:n.847T= (ACTC1)
ENST00000650163.1:n.833T= (ACTC1)
ENST00000290378.4:c.753T= (ACTC1)	ENSP00000290378.4:p.Thr251=
ENST00000557860.1:n.443T= (ACTC1)
ENST00000560563.1:n.252T= (ACTC1)
NM_005159.4:c.753T= , LRG_388t1:c.753T= (ACTC1)	NP_005150.1:p.Thr251=
NR_120329.1:n.299+14714A= (GJD2-DT)
NM_005159.5:c.753T= (ACTC1) MANE Select	NP_005150.1:p.Thr251=