Canonical Allele Identifier: CA019710

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 18326
• ClinVar RCV Id: RCV000697168 ; RCV003996111 ; RCV004018647 ; RCV000019991 ; RCV000038323
• dbSNP Id: rs121912676
• ExAC: 15:35085632 G / A
• gnomAD v2: 15-35085632-G-A
• gnomAD v4: 15-34793431-G-A
• MyVariant Identifiers: chr15:g.35085632G>A (hg19) ; chr15:g.34793431G>A (hg38)
• PubMed: PMID:18403758

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793431G>A , CM000677.2:g.34793431G>A	GRCh38
NC_000015.9:g.35085632G>A , CM000677.1:g.35085632G>A	GRCh37
NC_000015.8:g.32872924G>A	NCBI36
NG_007553.1:g.7296C>T , LRG_388:g.7296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.374C>T (ACTC1)
ENST00000290378.6:c.268C>T (ACTC1) MANE Select	ENSP00000290378.4:p.His90Tyr
ENST00000647798.1:n.415C>T (ACTC1)
ENST00000648556.1:n.425C>T (ACTC1)
ENST00000650163.1:n.348C>T (ACTC1)
ENST00000290378.4:c.268C>T (ACTC1)	ENSP00000290378.4:p.His90Tyr
NM_005159.4:c.268C>T , LRG_388t1:c.268C>T (ACTC1)	NP_005150.1:p.His90Tyr
NR_120329.1:n.299+16000G>A (GJD2-DT)
NM_005159.5:c.268C>T (ACTC1) MANE Select	NP_005150.1:p.His90Tyr