Canonical Allele Identifier: CA489419857
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084385C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792184C>A , CM000677.2:g.34792184C>A GRCh38
NC_000015.9:g.35084385C>A , CM000677.1:g.35084385C>A GRCh37
NC_000015.8:g.32871677C>A NCBI36
NG_007553.1:g.8543G>T , LRG_388:g.8543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.820G>T (ACTC1)
ENST00000290378.6:c.714G>T (ACTC1) MANE Select ENSP00000290378.4:p.Leu238=
ENST00000647798.1:n.808G>T (ACTC1)
ENST00000650163.1:n.794G>T (ACTC1)
ENST00000290378.4:c.714G>T (ACTC1) ENSP00000290378.4:p.Leu238=
ENST00000557860.1:n.404G>T (ACTC1)
ENST00000560563.1:n.213G>T (ACTC1)
NM_005159.4:c.714G>T , LRG_388t1:c.714G>T (ACTC1) NP_005150.1:p.Leu238=
NR_120329.1:n.299+14753C>A (GJD2-DT)
NM_005159.5:c.714G>T (ACTC1) MANE Select NP_005150.1:p.Leu238=
Search 100 bp 5'
Search 100 bp 3'