Canonical Allele Identifier: CA2169212440
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794593G= , CM000677.2:g.34794593G= GRCh38
NC_000015.9:g.35086794G= , CM000677.1:g.35086794G= GRCh37
NC_000015.8:g.32874086G= NCBI36
NG_007553.1:g.6134C= , LRG_388:g.6134C=

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+87C= (ACTC1)
ENST00000290378.6:c.129+87C= (ACTC1) MANE Select ENSP00000290378.4:n.129+87C=
ENST00000290378.4:c.129+87C= (ACTC1) ENSP00000290378.4:n.129+87C=
NM_005159.4:c.129+87C= , LRG_388t1:c.129+87C= (ACTC1) NP_005150.1:n.129+87C=
NR_120329.1:n.300-15903G= (GJD2-DT)
NM_005159.5:c.129+87C= (ACTC1) MANE Select NP_005150.1:n.129+87C=
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