Canonical Allele Identifier: CA391631740
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793449T>A , CM000677.2:g.34793449T>A GRCh38
NC_000015.9:g.35085650T>A , CM000677.1:g.35085650T>A GRCh37
NC_000015.8:g.32872942T>A NCBI36
NG_007553.1:g.7278A>T , LRG_388:g.7278A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.356A>T (ACTC1)
ENST00000290378.6:c.250A>T (ACTC1) MANE Select ENSP00000290378.4:p.Met84Leu
ENST00000647798.1:n.397A>T (ACTC1)
ENST00000648556.1:n.407A>T (ACTC1)
ENST00000650163.1:n.330A>T (ACTC1)
ENST00000290378.4:c.250A>T (ACTC1) ENSP00000290378.4:p.Met84Leu
NM_005159.4:c.250A>T , LRG_388t1:c.250A>T (ACTC1) NP_005150.1:p.Met84Leu
NR_120329.1:n.299+16018T>A (GJD2-DT)
NM_005159.5:c.250A>T (ACTC1) MANE Select NP_005150.1:p.Met84Leu