Canonical Allele Identifier: CA391629499
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791220A>G , CM000677.2:g.34791220A>G GRCh38
NC_000015.9:g.35083421A>G , CM000677.1:g.35083421A>G GRCh37
NC_000015.8:g.32870713A>G NCBI36
NG_007553.1:g.9507T>C , LRG_388:g.9507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1784T>C (ACTC1)
ENST00000290378.6:c.884T>C (ACTC1) MANE Select ENSP00000290378.4:p.Leu295Pro
ENST00000647798.1:n.978T>C (ACTC1)
ENST00000650163.1:n.964T>C (ACTC1)
ENST00000290378.4:c.884T>C (ACTC1) ENSP00000290378.4:p.Leu295Pro
ENST00000557860.1:n.574T>C (ACTC1)
NM_005159.4:c.884T>C , LRG_388t1:c.884T>C (ACTC1) NP_005150.1:p.Leu295Pro
NR_120329.1:n.299+13789A>G (GJD2-DT)
NM_005159.5:c.884T>C (ACTC1) MANE Select NP_005150.1:p.Leu295Pro