Canonical Allele Identifier: CA2580089280

Gene: ACTC1 GJD2-DT

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792398A>G , CM000677.2:g.34792398A>G	GRCh38
NC_000015.9:g.35084599A>G , CM000677.1:g.35084599A>G	GRCh37
NC_000015.8:g.32871891A>G	NCBI36
NG_007553.1:g.8329T>C , LRG_388:g.8329T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+10T>C (ACTC1)
ENST00000290378.6:c.616+10T>C (ACTC1) MANE Select	ENSP00000290378.4:n.616+10T>C
ENST00000647798.1:n.710+10T>C (ACTC1)
ENST00000648556.1:n.773+10T>C (ACTC1)
ENST00000650163.1:n.696+10T>C (ACTC1)
ENST00000290378.4:c.616+10T>C (ACTC1)	ENSP00000290378.4:n.616+10T>C
ENST00000557860.1:n.306+10T>C (ACTC1)
ENST00000560563.1:n.115+10T>C (ACTC1)
NM_005159.4:c.616+10T>C , LRG_388t1:c.616+10T>C (ACTC1)	NP_005150.1:n.616+10T>C
NR_120329.1:n.299+14967A>G (GJD2-DT)
NM_005159.5:c.616+10T>C (ACTC1) MANE Select	NP_005150.1:n.616+10T>C