Canonical Allele Identifier: CA2169213116
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794811T= , CM000677.2:g.34794811T= GRCh38
NC_000015.9:g.35087012T= , CM000677.1:g.35087012T= GRCh37
NC_000015.8:g.32874304T= NCBI36
NG_007553.1:g.5916A= , LRG_388:g.5916A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.104A= (ACTC1)
ENST00000290378.6:c.-3A= (ACTC1) MANE Select ENSP00000290378.4:n.-3A=
ENST00000290378.4:c.-3A= (ACTC1) ENSP00000290378.4:n.-3A=
NM_005159.4:c.-3A= , LRG_388t1:c.-3A= (ACTC1) NP_005150.1:n.-3A=
NR_120329.1:n.300-15685T= (GJD2-DT)
NM_005159.5:c.-3A= (ACTC1) MANE Select NP_005150.1:n.-3A=
Search 100 bp 5'
Search 100 bp 3'