Canonical Allele Identifier: CA489655782
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 1172415
dbSNP Id: rs397517058
MyVariant Identifiers: chr15:g.35085606C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793405C>A , CM000677.2:g.34793405C>A GRCh38
NC_000015.9:g.35085606C>A , CM000677.1:g.35085606C>A GRCh37
NC_000015.8:g.32872898C>A NCBI36
NG_007553.1:g.7322G>T , LRG_388:g.7322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.400G>T (ACTC1)
ENST00000290378.6:c.294G>T (ACTC1) MANE Select ENSP00000290378.4:p.Val98=
ENST00000647798.1:n.441G>T (ACTC1)
ENST00000648556.1:n.451G>T (ACTC1)
ENST00000650163.1:n.374G>T (ACTC1)
ENST00000290378.4:c.294G>T (ACTC1) ENSP00000290378.4:p.Val98=
NM_005159.4:c.294G>T , LRG_388t1:c.294G>T (ACTC1) NP_005150.1:p.Val98=
NR_120329.1:n.299+15974C>A (GJD2-DT)
NM_005159.5:c.294G>T (ACTC1) MANE Select NP_005150.1:p.Val98=