Canonical Allele Identifier: CA268664810

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1332647
• ClinVar RCV Id: RCV001805693 ; RCV002541443
• dbSNP Id: rs993704001
• gnomAD v3: 15-34794758-C-T
• gnomAD v4: 15-34794758-C-T
• MyVariant Identifiers: chr15:g.35086959C>T (hg19) ; chr15:g.34794758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794758C>T , CM000677.2:g.34794758C>T	GRCh38
NC_000015.9:g.35086959C>T , CM000677.1:g.35086959C>T	GRCh37
NC_000015.8:g.32874251C>T	NCBI36
NG_007553.1:g.5969G>A , LRG_388:g.5969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.157G>A (ACTC1)
ENST00000290378.6:c.51G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Gly17=
ENST00000290378.4:c.51G>A (ACTC1)	ENSP00000290378.4:p.Gly17=
NM_005159.4:c.51G>A , LRG_388t1:c.51G>A (ACTC1)	NP_005150.1:p.Gly17=
NR_120329.1:n.300-15738C>T (GJD2-DT)
NM_005159.5:c.51G>A (ACTC1) MANE Select	NP_005150.1:p.Gly17=