Canonical Allele Identifier: CA042407

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792275C>T , CM000677.2:g.34792275C>T	GRCh38
NC_000015.9:g.35084476C>T , CM000677.1:g.35084476C>T	GRCh37
NC_000015.8:g.32871768C>T	NCBI36
NG_007553.1:g.8452G>A , LRG_388:g.8452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005159.5:c.623G>A (ACTC1) MANE Select	NP_005150.1:p.Arg208His
ENST00000290378.6:c.623G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Arg208His
NM_005159.4:c.623G>A , LRG_388t1:c.623G>A (ACTC1)	NP_005150.1:p.Arg208His
NR_120329.1:n.299+14844C>T (GJD2-DT)
ENST00000290378.4:c.623G>A (ACTC1)	ENSP00000290378.4:p.Arg208His
ENST00000557860.1:n.313G>A (ACTC1)
ENST00000560563.1:n.122G>A (ACTC1)
ENST00000560563.2:n.729G>A (ACTC1)
ENST00000647798.1:n.717G>A (ACTC1)
ENST00000648556.1:n.780G>A (ACTC1)
ENST00000650163.1:n.703G>A (ACTC1)