Canonical Allele Identifier: CA489655803
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140431996
MyVariant Identifiers: chr15:g.35085618A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793417A>G , CM000677.2:g.34793417A>G GRCh38
NC_000015.9:g.35085618A>G , CM000677.1:g.35085618A>G GRCh37
NC_000015.8:g.32872910A>G NCBI36
NG_007553.1:g.7310T>C , LRG_388:g.7310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.388T>C (ACTC1)
ENST00000290378.6:c.282T>C (ACTC1) MANE Select ENSP00000290378.4:p.Asn94=
ENST00000647798.1:n.429T>C (ACTC1)
ENST00000648556.1:n.439T>C (ACTC1)
ENST00000650163.1:n.362T>C (ACTC1)
ENST00000290378.4:c.282T>C (ACTC1) ENSP00000290378.4:p.Asn94=
NM_005159.4:c.282T>C , LRG_388t1:c.282T>C (ACTC1) NP_005150.1:p.Asn94=
NR_120329.1:n.299+15986A>G (GJD2-DT)
NM_005159.5:c.282T>C (ACTC1) MANE Select NP_005150.1:p.Asn94=