Canonical Allele Identifier: CA2627662571
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34791553-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791553G>A , CM000677.2:g.34791553G>A GRCh38
NC_000015.9:g.35083754G>A , CM000677.1:g.35083754G>A GRCh37
NC_000015.8:g.32871046G>A NCBI36
NG_007553.1:g.9174C>T , LRG_388:g.9174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1451C>T (ACTC1)
ENST00000290378.6:c.809-258C>T (ACTC1) MANE Select ENSP00000290378.4:n.809-258C>T
ENST00000647798.1:n.903-258C>T (ACTC1)
ENST00000650163.1:n.889-258C>T (ACTC1)
ENST00000290378.4:c.809-258C>T (ACTC1) ENSP00000290378.4:n.809-258C>T
ENST00000557860.1:n.499-258C>T (ACTC1)
NM_005159.4:c.809-258C>T , LRG_388t1:c.809-258C>T (ACTC1) NP_005150.1:n.809-258C>T
NR_120329.1:n.299+14122G>A (GJD2-DT)
NM_005159.5:c.809-258C>T (ACTC1) MANE Select NP_005150.1:n.809-258C>T
Search 100 bp 5'
Search 100 bp 3'