Canonical Allele Identifier: CA2627662852
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791999C>A , CM000677.2:g.34791999C>A GRCh38
NC_000015.9:g.35084200C>A , CM000677.1:g.35084200C>A GRCh37
NC_000015.8:g.32871492C>A NCBI36
NG_007553.1:g.8728G>T , LRG_388:g.8728G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1005G>T (ACTC1)
ENST00000290378.6:c.808+91G>T (ACTC1) MANE Select ENSP00000290378.4:n.808+91G>T
ENST00000647798.1:n.902+91G>T (ACTC1)
ENST00000650163.1:n.888+91G>T (ACTC1)
ENST00000290378.4:c.808+91G>T (ACTC1) ENSP00000290378.4:n.808+91G>T
ENST00000557860.1:n.498+91G>T (ACTC1)
ENST00000560563.1:n.398G>T (ACTC1)
NM_005159.4:c.808+91G>T , LRG_388t1:c.808+91G>T (ACTC1) NP_005150.1:n.808+91G>T
NR_120329.1:n.299+14568C>A (GJD2-DT)
NM_005159.5:c.808+91G>T (ACTC1) MANE Select NP_005150.1:n.808+91G>T
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