Canonical Allele Identifier: CA391628901
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35082678T>G (hg19) chr15:g.34790477T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790477T>G , CM000677.2:g.34790477T>G GRCh38
NC_000015.9:g.35082678T>G , CM000677.1:g.35082678T>G GRCh37
NC_000015.8:g.32869970T>G NCBI36
NG_007553.1:g.10250A>C , LRG_388:g.10250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1969A>C (ACTC1)
ENST00000290378.6:c.1069A>C (ACTC1) MANE Select ENSP00000290378.4:p.Met357Leu
ENST00000647798.1:n.1163A>C (ACTC1)
ENST00000650163.1:n.1149A>C (ACTC1)
ENST00000290378.4:c.1069A>C (ACTC1) ENSP00000290378.4:p.Met357Leu
NM_005159.4:c.1069A>C , LRG_388t1:c.1069A>C (ACTC1) NP_005150.1:p.Met357Leu
NR_120329.1:n.299+13046T>G (GJD2-DT)
NM_005159.5:c.1069A>C (ACTC1) MANE Select NP_005150.1:p.Met357Leu
Search 100 bp 5'
Search 100 bp 3'