Canonical Allele Identifier: CA391629712
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

COSMIC: COSM960879

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792103C>A , CM000677.2:g.34792103C>A GRCh38
NC_000015.9:g.35084304C>A , CM000677.1:g.35084304C>A GRCh37
NC_000015.8:g.32871596C>A NCBI36
NG_007553.1:g.8624G>T , LRG_388:g.8624G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.901G>T (ACTC1)
ENST00000290378.6:c.795G>T (ACTC1) MANE Select ENSP00000290378.4:p.Gln265His
ENST00000647798.1:n.889G>T (ACTC1)
ENST00000650163.1:n.875G>T (ACTC1)
ENST00000290378.4:c.795G>T (ACTC1) ENSP00000290378.4:p.Gln265His
ENST00000557860.1:n.485G>T (ACTC1)
ENST00000560563.1:n.294G>T (ACTC1)
NM_005159.4:c.795G>T , LRG_388t1:c.795G>T (ACTC1) NP_005150.1:p.Gln265His
NR_120329.1:n.299+14672C>A (GJD2-DT)
NM_005159.5:c.795G>T (ACTC1) MANE Select NP_005150.1:p.Gln265His