Canonical Allele Identifier: CA2627662000

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790362-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790362A>G , CM000677.2:g.34790362A>G	GRCh38
NC_000015.9:g.35082563A>G , CM000677.1:g.35082563A>G	GRCh37
NC_000015.8:g.32869855A>G	NCBI36
NG_007553.1:g.10365T>C , LRG_388:g.10365T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.2084T>C (ACTC1)
ENST00000290378.6:c.*50T>C (ACTC1) MANE Select	ENSP00000290378.4:n.*50T>C
ENST00000647798.1:n.1278T>C (ACTC1)
ENST00000650163.1:n.1264T>C (ACTC1)
ENST00000290378.4:c.*50T>C (ACTC1)	ENSP00000290378.4:n.*50T>C
NM_005159.4:c.*50T>C , LRG_388t1:c.*50T>C (ACTC1)	NP_005150.1:n.*50T>C
NR_120329.1:n.299+12931A>G (GJD2-DT)
NM_005159.5:c.*50T>C (ACTC1) MANE Select	NP_005150.1:n.*50T>C