Canonical Allele Identifier: CA391633190
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2044985
ClinVar RCV Id: RCV002900405
MyVariant Identifiers: chr15:g.35086928C>T (hg19) chr15:g.34794727C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794727C>T , CM000677.2:g.34794727C>T GRCh38
NC_000015.9:g.35086928C>T , CM000677.1:g.35086928C>T GRCh37
NC_000015.8:g.32874220C>T NCBI36
NG_007553.1:g.6000G>A , LRG_388:g.6000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.188G>A (ACTC1)
ENST00000290378.6:c.82G>A (ACTC1) MANE Select ENSP00000290378.4:p.Ala28Thr
ENST00000290378.4:c.82G>A (ACTC1) ENSP00000290378.4:p.Ala28Thr
NM_005159.4:c.82G>A , LRG_388t1:c.82G>A (ACTC1) NP_005150.1:p.Ala28Thr
NR_120329.1:n.300-15769C>T (GJD2-DT)
NM_005159.5:c.82G>A (ACTC1) MANE Select NP_005150.1:p.Ala28Thr
Search 100 bp 5'
Search 100 bp 3'