Canonical Allele Identifier: CA391631980
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

COSMIC: COSM700035

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793500G>T , CM000677.2:g.34793500G>T GRCh38
NC_000015.9:g.35085701G>T , CM000677.1:g.35085701G>T GRCh37
NC_000015.8:g.32872993G>T NCBI36
NG_007553.1:g.7227C>A , LRG_388:g.7227C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.305C>A (ACTC1)
ENST00000290378.6:c.199C>A (ACTC1) MANE Select ENSP00000290378.4:p.Leu67Met
ENST00000647798.1:n.346C>A (ACTC1)
ENST00000648556.1:n.356C>A (ACTC1)
ENST00000650163.1:n.279C>A (ACTC1)
ENST00000290378.4:c.199C>A (ACTC1) ENSP00000290378.4:p.Leu67Met
NM_005159.4:c.199C>A , LRG_388t1:c.199C>A (ACTC1) NP_005150.1:p.Leu67Met
NR_120329.1:n.299+16069G>T (GJD2-DT)
NM_005159.5:c.199C>A (ACTC1) MANE Select NP_005150.1:p.Leu67Met