Canonical Allele Identifier: CA2169210824

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793528A= , CM000677.2:g.34793528A=	GRCh38
NC_000015.9:g.35085729A= , CM000677.1:g.35085729A=	GRCh37
NC_000015.8:g.32873021A=	NCBI36
NG_007553.1:g.7199T= , LRG_388:g.7199T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.277T= (ACTC1)
ENST00000290378.6:c.171T= (ACTC1) MANE Select	ENSP00000290378.4:p.Gly57=
ENST00000647798.1:n.318T= (ACTC1)
ENST00000648556.1:n.328T= (ACTC1)
ENST00000650163.1:n.251T= (ACTC1)
ENST00000290378.4:c.171T= (ACTC1)	ENSP00000290378.4:p.Gly57=
NM_005159.4:c.171T= , LRG_388t1:c.171T= (ACTC1)	NP_005150.1:p.Gly57=
NR_120329.1:n.299+16097A= (GJD2-DT)
NM_005159.5:c.171T= (ACTC1) MANE Select	NP_005150.1:p.Gly57=