Canonical Allele Identifier: CA489655538
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1595760984
MyVariant Identifiers: chr15:g.35084742T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792541T>C , CM000677.2:g.34792541T>C GRCh38
NC_000015.9:g.35084742T>C , CM000677.1:g.35084742T>C GRCh37
NC_000015.8:g.32872034T>C NCBI36
NG_007553.1:g.8186A>G , LRG_388:g.8186A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.589A>G (ACTC1)
ENST00000290378.6:c.483A>G (ACTC1) MANE Select ENSP00000290378.4:p.Val161=
ENST00000647798.1:n.577A>G (ACTC1)
ENST00000648556.1:n.640A>G (ACTC1)
ENST00000650163.1:n.563A>G (ACTC1)
ENST00000290378.4:c.483A>G (ACTC1) ENSP00000290378.4:p.Val161=
ENST00000557860.1:n.173A>G (ACTC1)
NM_005159.4:c.483A>G , LRG_388t1:c.483A>G (ACTC1) NP_005150.1:p.Val161=
NR_120329.1:n.299+15110T>C (GJD2-DT)
NM_005159.5:c.483A>G (ACTC1) MANE Select NP_005150.1:p.Val161=