Canonical Allele Identifier: CA391633326
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794760C>A , CM000677.2:g.34794760C>A GRCh38
NC_000015.9:g.35086961C>A , CM000677.1:g.35086961C>A GRCh37
NC_000015.8:g.32874253C>A NCBI36
NG_007553.1:g.5967G>T , LRG_388:g.5967G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.155G>T (ACTC1)
ENST00000290378.6:c.49G>T (ACTC1) MANE Select ENSP00000290378.4:p.Gly17Trp
ENST00000290378.4:c.49G>T (ACTC1) ENSP00000290378.4:p.Gly17Trp
NM_005159.4:c.49G>T , LRG_388t1:c.49G>T (ACTC1) NP_005150.1:p.Gly17Trp
NR_120329.1:n.300-15736C>A (GJD2-DT)
NM_005159.5:c.49G>T (ACTC1) MANE Select NP_005150.1:p.Gly17Trp