Canonical Allele Identifier: CA391629500
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791221G>C , CM000677.2:g.34791221G>C GRCh38
NC_000015.9:g.35083422G>C , CM000677.1:g.35083422G>C GRCh37
NC_000015.8:g.32870714G>C NCBI36
NG_007553.1:g.9506C>G , LRG_388:g.9506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1783C>G (ACTC1)
ENST00000290378.6:c.883C>G (ACTC1) MANE Select ENSP00000290378.4:p.Leu295Val
ENST00000647798.1:n.977C>G (ACTC1)
ENST00000650163.1:n.963C>G (ACTC1)
ENST00000290378.4:c.883C>G (ACTC1) ENSP00000290378.4:p.Leu295Val
ENST00000557860.1:n.573C>G (ACTC1)
NM_005159.4:c.883C>G , LRG_388t1:c.883C>G (ACTC1) NP_005150.1:p.Leu295Val
NR_120329.1:n.299+13790G>C (GJD2-DT)
NM_005159.5:c.883C>G (ACTC1) MANE Select NP_005150.1:p.Leu295Val