Canonical Allele Identifier: CA391630868
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084621A>C (hg19) chr15:g.34792420A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792420A>C , CM000677.2:g.34792420A>C GRCh38
NC_000015.9:g.35084621A>C , CM000677.1:g.35084621A>C GRCh37
NC_000015.8:g.32871913A>C NCBI36
NG_007553.1:g.8307T>G , LRG_388:g.8307T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.710T>G (ACTC1)
ENST00000290378.6:c.604T>G (ACTC1) MANE Select ENSP00000290378.4:p.Phe202Val
ENST00000647798.1:n.698T>G (ACTC1)
ENST00000648556.1:n.761T>G (ACTC1)
ENST00000650163.1:n.684T>G (ACTC1)
ENST00000290378.4:c.604T>G (ACTC1) ENSP00000290378.4:p.Phe202Val
ENST00000557860.1:n.294T>G (ACTC1)
ENST00000560563.1:n.103T>G (ACTC1)
NM_005159.4:c.604T>G , LRG_388t1:c.604T>G (ACTC1) NP_005150.1:p.Phe202Val
NR_120329.1:n.299+14989A>C (GJD2-DT)
NM_005159.5:c.604T>G (ACTC1) MANE Select NP_005150.1:p.Phe202Val
Search 100 bp 5'
Search 100 bp 3'