Canonical Allele Identifier: CA2741420046
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790371C>A , CM000677.2:g.34790371C>A GRCh38
NC_000015.9:g.35082572C>A , CM000677.1:g.35082572C>A GRCh37
NC_000015.8:g.32869864C>A NCBI36
NG_007553.1:g.10356G>T , LRG_388:g.10356G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2075G>T (ACTC1)
ENST00000290378.6:c.*41G>T (ACTC1) MANE Select ENSP00000290378.4:n.*41G>T
ENST00000647798.1:n.1269G>T (ACTC1)
ENST00000650163.1:n.1255G>T (ACTC1)
ENST00000290378.4:c.*41G>T (ACTC1) ENSP00000290378.4:n.*41G>T
NM_005159.4:c.*41G>T , LRG_388t1:c.*41G>T (ACTC1) NP_005150.1:n.*41G>T
NR_120329.1:n.299+12940C>A (GJD2-DT)
NM_005159.5:c.*41G>T (ACTC1) MANE Select NP_005150.1:n.*41G>T
Search 100 bp 5'
Search 100 bp 3'