Canonical Allele Identifier: CA10587782
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 264401
dbSNP Id: rs886039144

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792547A>C , CM000677.2:g.34792547A>C GRCh38
NC_000015.9:g.35084748A>C , CM000677.1:g.35084748A>C GRCh37
NC_000015.8:g.32872040A>C NCBI36
NG_007553.1:g.8180T>G , LRG_388:g.8180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.583T>G (ACTC1)
ENST00000290378.6:c.477T>G (ACTC1) MANE Select ENSP00000290378.4:p.Asp159Glu
ENST00000647798.1:n.571T>G (ACTC1)
ENST00000648556.1:n.634T>G (ACTC1)
ENST00000650163.1:n.557T>G (ACTC1)
ENST00000290378.4:c.477T>G (ACTC1) ENSP00000290378.4:p.Asp159Glu
ENST00000557860.1:n.167T>G (ACTC1)
NM_005159.4:c.477T>G , LRG_388t1:c.477T>G (ACTC1) NP_005150.1:p.Asp159Glu
NR_120329.1:n.299+15116A>C (GJD2-DT)
NM_005159.5:c.477T>G (ACTC1) MANE Select NP_005150.1:p.Asp159Glu