Canonical Allele Identifier: CA489655534
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34793555-A-T
MyVariant Identifiers: chr15:g.35085756A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793555A>T , CM000677.2:g.34793555A>T GRCh38
NC_000015.9:g.35085756A>T , CM000677.1:g.35085756A>T GRCh37
NC_000015.8:g.32873048A>T NCBI36
NG_007553.1:g.7172T>A , LRG_388:g.7172T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.250T>A (ACTC1)
ENST00000290378.6:c.144T>A (ACTC1) MANE Select ENSP00000290378.4:p.Gly48=
ENST00000647798.1:n.291T>A (ACTC1)
ENST00000648556.1:n.301T>A (ACTC1)
ENST00000650163.1:n.224T>A (ACTC1)
ENST00000290378.4:c.144T>A (ACTC1) ENSP00000290378.4:p.Gly48=
NM_005159.4:c.144T>A , LRG_388t1:c.144T>A (ACTC1) NP_005150.1:p.Gly48=
NR_120329.1:n.299+16124A>T (GJD2-DT)
NM_005159.5:c.144T>A (ACTC1) MANE Select NP_005150.1:p.Gly48=
Search 100 bp 5'
Search 100 bp 3'