Canonical Allele Identifier: CA268659961

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs550947264
• gnomAD v3: 15-34790216-A-G
• gnomAD v4: 15-34790216-A-G
• MyVariant Identifiers: chr15:g.35082417A>G (hg19) ; chr15:g.34790216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790216A>G , CM000677.2:g.34790216A>G	GRCh38
NC_000015.9:g.35082417A>G , CM000677.1:g.35082417A>G	GRCh37
NC_000015.8:g.32869709A>G	NCBI36
NG_007553.1:g.10511T>C , LRG_388:g.10511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2230T>C (ACTC1)
ENST00000290378.4:c.*196T>C (ACTC1)	ENSP00000290378.4:n.*196T>C
NM_005159.4:c.*196T>C , LRG_388t1:c.*196T>C (ACTC1)	NP_005150.1:n.*196T>C
NR_120329.1:n.299+12785A>G (GJD2-DT)