Canonical Allele Identifier: CA391631987
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793502A>C , CM000677.2:g.34793502A>C GRCh38
NC_000015.9:g.35085703A>C , CM000677.1:g.35085703A>C GRCh37
NC_000015.8:g.32872995A>C NCBI36
NG_007553.1:g.7225T>G , LRG_388:g.7225T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.303T>G (ACTC1)
ENST00000290378.6:c.197T>G (ACTC1) MANE Select ENSP00000290378.4:p.Ile66Ser
ENST00000647798.1:n.344T>G (ACTC1)
ENST00000648556.1:n.354T>G (ACTC1)
ENST00000650163.1:n.277T>G (ACTC1)
ENST00000290378.4:c.197T>G (ACTC1) ENSP00000290378.4:p.Ile66Ser
NM_005159.4:c.197T>G , LRG_388t1:c.197T>G (ACTC1) NP_005150.1:p.Ile66Ser
NR_120329.1:n.299+16071A>C (GJD2-DT)
NM_005159.5:c.197T>G (ACTC1) MANE Select NP_005150.1:p.Ile66Ser