Canonical Allele Identifier: CA2169210654

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793470T= , CM000677.2:g.34793470T=	GRCh38
NC_000015.9:g.35085671T= , CM000677.1:g.35085671T=	GRCh37
NC_000015.8:g.32872963T=	NCBI36
NG_007553.1:g.7257A= , LRG_388:g.7257A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.335A= (ACTC1)
ENST00000290378.6:c.229A= (ACTC1) MANE Select	ENSP00000290378.4:p.Ile77=
ENST00000647798.1:n.376A= (ACTC1)
ENST00000648556.1:n.386A= (ACTC1)
ENST00000650163.1:n.309A= (ACTC1)
ENST00000290378.4:c.229A= (ACTC1)	ENSP00000290378.4:p.Ile77=
NM_005159.4:c.229A= , LRG_388t1:c.229A= (ACTC1)	NP_005150.1:p.Ile77=
NR_120329.1:n.299+16039T= (GJD2-DT)
NM_005159.5:c.229A= (ACTC1) MANE Select	NP_005150.1:p.Ile77=