Canonical Allele Identifier: CA489655521
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs765421643
MyVariant Identifiers: chr15:g.35084730G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792529G>T , CM000677.2:g.34792529G>T GRCh38
NC_000015.9:g.35084730G>T , CM000677.1:g.35084730G>T GRCh37
NC_000015.8:g.32872022G>T NCBI36
NG_007553.1:g.8198C>A , LRG_388:g.8198C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.601C>A (ACTC1)
ENST00000290378.6:c.495C>A (ACTC1) MANE Select ENSP00000290378.4:p.Val165=
ENST00000647798.1:n.589C>A (ACTC1)
ENST00000648556.1:n.652C>A (ACTC1)
ENST00000650163.1:n.575C>A (ACTC1)
ENST00000290378.4:c.495C>A (ACTC1) ENSP00000290378.4:p.Val165=
ENST00000557860.1:n.185C>A (ACTC1)
NM_005159.4:c.495C>A , LRG_388t1:c.495C>A (ACTC1) NP_005150.1:p.Val165=
NR_120329.1:n.299+15098G>T (GJD2-DT)
NM_005159.5:c.495C>A (ACTC1) MANE Select NP_005150.1:p.Val165=