Canonical Allele Identifier: CA043083
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs752512209
ExAC: 15:35083299 C / T
gnomAD v2: 15-35083299-C-T
gnomAD v4: 15-34791098-C-T
MyVariant Identifiers: chr15:g.35083299C>T (hg19) chr15:g.34791098C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791098C>T , CM000677.2:g.34791098C>T GRCh38
NC_000015.9:g.35083299C>T , CM000677.1:g.35083299C>T GRCh37
NC_000015.8:g.32870591C>T NCBI36
NG_007553.1:g.9629G>A , LRG_388:g.9629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1890+16G>A (ACTC1)
ENST00000290378.6:c.990+16G>A (ACTC1) MANE Select ENSP00000290378.4:n.990+16G>A
ENST00000647798.1:n.1084+16G>A (ACTC1)
ENST00000650163.1:n.1070+16G>A (ACTC1)
ENST00000290378.4:c.990+16G>A (ACTC1) ENSP00000290378.4:n.990+16G>A
NM_005159.4:c.990+16G>A , LRG_388t1:c.990+16G>A (ACTC1) NP_005150.1:n.990+16G>A
NR_120329.1:n.299+13667C>T (GJD2-DT)
NM_005159.5:c.990+16G>A (ACTC1) MANE Select NP_005150.1:n.990+16G>A
Search 100 bp 5'
Search 100 bp 3'