Canonical Allele Identifier: CA2627662113
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790982-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790982G>C , CM000677.2:g.34790982G>C GRCh38
NC_000015.9:g.35083183G>C , CM000677.1:g.35083183G>C GRCh37
NC_000015.8:g.32870475G>C NCBI36
NG_007553.1:g.9745C>G , LRG_388:g.9745C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1890+132C>G (ACTC1)
ENST00000290378.6:c.990+132C>G (ACTC1) MANE Select ENSP00000290378.4:n.990+132C>G
ENST00000647798.1:n.1084+132C>G (ACTC1)
ENST00000650163.1:n.1070+132C>G (ACTC1)
ENST00000290378.4:c.990+132C>G (ACTC1) ENSP00000290378.4:n.990+132C>G
NM_005159.4:c.990+132C>G , LRG_388t1:c.990+132C>G (ACTC1) NP_005150.1:n.990+132C>G
NR_120329.1:n.299+13551G>C (GJD2-DT)
NM_005159.5:c.990+132C>G (ACTC1) MANE Select NP_005150.1:n.990+132C>G
Search 100 bp 5'
Search 100 bp 3'