Canonical Allele Identifier: CA2627663342
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34793600-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793600T>C , CM000677.2:g.34793600T>C GRCh38
NC_000015.9:g.35085801T>C , CM000677.1:g.35085801T>C GRCh37
NC_000015.8:g.32873093T>C NCBI36
NG_007553.1:g.7127A>G , LRG_388:g.7127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.236-31A>G (ACTC1)
ENST00000290378.6:c.130-31A>G (ACTC1) MANE Select ENSP00000290378.4:n.130-31A>G
ENST00000647798.1:n.277-31A>G (ACTC1)
ENST00000648556.1:n.287-31A>G (ACTC1)
ENST00000650163.1:n.210-31A>G (ACTC1)
ENST00000290378.4:c.130-31A>G (ACTC1) ENSP00000290378.4:n.130-31A>G
NM_005159.4:c.130-31A>G , LRG_388t1:c.130-31A>G (ACTC1) NP_005150.1:n.130-31A>G
NR_120329.1:n.299+16169T>C (GJD2-DT)
NM_005159.5:c.130-31A>G (ACTC1) MANE Select NP_005150.1:n.130-31A>G
Search 100 bp 5'
Search 100 bp 3'