Canonical Allele Identifier: CA391631098
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084726T>A (hg19) chr15:g.34792525T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792525T>A , CM000677.2:g.34792525T>A GRCh38
NC_000015.9:g.35084726T>A , CM000677.1:g.35084726T>A GRCh37
NC_000015.8:g.32872018T>A NCBI36
NG_007553.1:g.8202A>T , LRG_388:g.8202A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.605A>T (ACTC1)
ENST00000290378.6:c.499A>T (ACTC1) MANE Select ENSP00000290378.4:p.Ile167Phe
ENST00000647798.1:n.593A>T (ACTC1)
ENST00000648556.1:n.656A>T (ACTC1)
ENST00000650163.1:n.579A>T (ACTC1)
ENST00000290378.4:c.499A>T (ACTC1) ENSP00000290378.4:p.Ile167Phe
ENST00000557860.1:n.189A>T (ACTC1)
NM_005159.4:c.499A>T , LRG_388t1:c.499A>T (ACTC1) NP_005150.1:p.Ile167Phe
NR_120329.1:n.299+15094T>A (GJD2-DT)
NM_005159.5:c.499A>T (ACTC1) MANE Select NP_005150.1:p.Ile167Phe
Search 100 bp 5'
Search 100 bp 3'