Canonical Allele Identifier: CA268659549

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs890048266
• gnomAD v3: 15-34789782-G-T
• gnomAD v4: 15-34789782-G-T
• MyVariant Identifiers: chr15:g.35081983G>T (hg19) ; chr15:g.34789782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789782G>T , CM000677.2:g.34789782G>T	GRCh38
NC_000015.9:g.35081983G>T , CM000677.1:g.35081983G>T	GRCh37
NC_000015.8:g.32869275G>T	NCBI36
NG_007553.1:g.10945C>A , LRG_388:g.10945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*630C>A (ACTC1)	ENSP00000290378.4:n.*630C>A
NM_005159.4:c.*630C>A , LRG_388t1:c.*630C>A (ACTC1)	NP_005150.1:n.*630C>A
NR_120329.1:n.299+12351G>T (GJD2-DT)