Canonical Allele Identifier: CA391629420
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 948806
ClinVar RCV Id: RCV001220136
dbSNP Id: rs1566967093

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791182A>G , CM000677.2:g.34791182A>G GRCh38
NC_000015.9:g.35083383A>G , CM000677.1:g.35083383A>G GRCh37
NC_000015.8:g.32870675A>G NCBI36
NG_007553.1:g.9545T>C , LRG_388:g.9545T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1822T>C (ACTC1)
ENST00000290378.6:c.922T>C (ACTC1) MANE Select ENSP00000290378.4:p.Tyr308His
ENST00000647798.1:n.1016T>C (ACTC1)
ENST00000650163.1:n.1002T>C (ACTC1)
ENST00000290378.4:c.922T>C (ACTC1) ENSP00000290378.4:p.Tyr308His
ENST00000557860.1:n.612T>C (ACTC1)
NM_005159.4:c.922T>C , LRG_388t1:c.922T>C (ACTC1) NP_005150.1:p.Tyr308His
NR_120329.1:n.299+13751A>G (GJD2-DT)
NM_005159.5:c.922T>C (ACTC1) MANE Select NP_005150.1:p.Tyr308His