Canonical Allele Identifier: CA391631397
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793334G>T , CM000677.2:g.34793334G>T GRCh38
NC_000015.9:g.35085535G>T , CM000677.1:g.35085535G>T GRCh37
NC_000015.8:g.32872827G>T NCBI36
NG_007553.1:g.7393C>A , LRG_388:g.7393C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.471C>A (ACTC1)
ENST00000290378.6:c.365C>A (ACTC1) MANE Select ENSP00000290378.4:p.Thr122Asn
ENST00000647798.1:n.512C>A (ACTC1)
ENST00000648556.1:n.522C>A (ACTC1)
ENST00000650163.1:n.445C>A (ACTC1)
ENST00000290378.4:c.365C>A (ACTC1) ENSP00000290378.4:p.Thr122Asn
NM_005159.4:c.365C>A , LRG_388t1:c.365C>A (ACTC1) NP_005150.1:p.Thr122Asn
NR_120329.1:n.299+15903G>T (GJD2-DT)
NM_005159.5:c.365C>A (ACTC1) MANE Select NP_005150.1:p.Thr122Asn