Canonical Allele Identifier: CA2803722704

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792365G>T , CM000677.2:g.34792365G>T	GRCh38
NC_000015.9:g.35084566G>T , CM000677.1:g.35084566G>T	GRCh37
NC_000015.8:g.32871858G>T	NCBI36
NG_007553.1:g.8362C>A , LRG_388:g.8362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+43C>A (ACTC1)
ENST00000290378.6:c.616+43C>A (ACTC1) MANE Select	ENSP00000290378.4:n.616+43C>A
ENST00000647798.1:n.710+43C>A (ACTC1)
ENST00000648556.1:n.773+43C>A (ACTC1)
ENST00000650163.1:n.696+43C>A (ACTC1)
ENST00000290378.4:c.616+43C>A (ACTC1)	ENSP00000290378.4:n.616+43C>A
ENST00000557860.1:n.306+43C>A (ACTC1)
ENST00000560563.1:n.115+43C>A (ACTC1)
NM_005159.4:c.616+43C>A , LRG_388t1:c.616+43C>A (ACTC1)	NP_005150.1:n.616+43C>A
NR_120329.1:n.299+14934G>T (GJD2-DT)
NM_005159.5:c.616+43C>A (ACTC1) MANE Select	NP_005150.1:n.616+43C>A