Canonical Allele Identifier: CA2627662165
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34791060-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791060C>A , CM000677.2:g.34791060C>A GRCh38
NC_000015.9:g.35083261C>A , CM000677.1:g.35083261C>A GRCh37
NC_000015.8:g.32870553C>A NCBI36
NG_007553.1:g.9667G>T , LRG_388:g.9667G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1890+54G>T (ACTC1)
ENST00000290378.6:c.990+54G>T (ACTC1) MANE Select ENSP00000290378.4:n.990+54G>T
ENST00000647798.1:n.1084+54G>T (ACTC1)
ENST00000650163.1:n.1070+54G>T (ACTC1)
ENST00000290378.4:c.990+54G>T (ACTC1) ENSP00000290378.4:n.990+54G>T
NM_005159.4:c.990+54G>T , LRG_388t1:c.990+54G>T (ACTC1) NP_005150.1:n.990+54G>T
NR_120329.1:n.299+13629C>A (GJD2-DT)
NM_005159.5:c.990+54G>T (ACTC1) MANE Select NP_005150.1:n.990+54G>T
Search 100 bp 5'
Search 100 bp 3'