Canonical Allele Identifier: CA2575670189
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792076A>C , CM000677.2:g.34792076A>C GRCh38
NC_000015.9:g.35084277A>C , CM000677.1:g.35084277A>C GRCh37
NC_000015.8:g.32871569A>C NCBI36
NG_007553.1:g.8651T>G , LRG_388:g.8651T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.928T>G (ACTC1)
ENST00000290378.6:c.808+14T>G (ACTC1) MANE Select ENSP00000290378.4:n.808+14T>G
ENST00000647798.1:n.902+14T>G (ACTC1)
ENST00000650163.1:n.888+14T>G (ACTC1)
ENST00000290378.4:c.808+14T>G (ACTC1) ENSP00000290378.4:n.808+14T>G
ENST00000557860.1:n.498+14T>G (ACTC1)
ENST00000560563.1:n.321T>G (ACTC1)
NM_005159.4:c.808+14T>G , LRG_388t1:c.808+14T>G (ACTC1) NP_005150.1:n.808+14T>G
NR_120329.1:n.299+14645A>C (GJD2-DT)
NM_005159.5:c.808+14T>G (ACTC1) MANE Select NP_005150.1:n.808+14T>G
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