Canonical Allele Identifier: CA489655414

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1171228
• ClinVar RCV Id: RCV001524178
• dbSNP Id: rs2140430845
• gnomAD v4: 15-34792421-G-A
• MyVariant Identifiers: chr15:g.35084622G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792421G>A , CM000677.2:g.34792421G>A	GRCh38
NC_000015.9:g.35084622G>A , CM000677.1:g.35084622G>A	GRCh37
NC_000015.8:g.32871914G>A	NCBI36
NG_007553.1:g.8306C>T , LRG_388:g.8306C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.709C>T (ACTC1)
ENST00000290378.6:c.603C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Ser201=
ENST00000647798.1:n.697C>T (ACTC1)
ENST00000648556.1:n.760C>T (ACTC1)
ENST00000650163.1:n.683C>T (ACTC1)
ENST00000290378.4:c.603C>T (ACTC1)	ENSP00000290378.4:p.Ser201=
ENST00000557860.1:n.293C>T (ACTC1)
ENST00000560563.1:n.102C>T (ACTC1)
NM_005159.4:c.603C>T , LRG_388t1:c.603C>T (ACTC1)	NP_005150.1:p.Ser201=
NR_120329.1:n.299+14990G>A (GJD2-DT)
NM_005159.5:c.603C>T (ACTC1) MANE Select	NP_005150.1:p.Ser201=