Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

ClinGen Allele Registry

Canonical Allele Identifier: CA489655469

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2930689

ClinVar RCV Id: RCV003789999

gnomAD v4: 15-34793492-C-G

MyVariant Identifiers: chr15:g.35085693C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793492C>G , CM000677.2:g.34793492C>G	GRCh38
NC_000015.9:g.35085693C>G , CM000677.1:g.35085693C>G	GRCh37
NC_000015.8:g.32872985C>G	NCBI36
NG_007553.1:g.7235G>C , LRG_388:g.7235G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.313G>C (ACTC1)
ENST00000290378.6:c.207G>C (ACTC1) MANE Select	ENSP00000290378.4:p.Leu69=
ENST00000647798.1:n.354G>C (ACTC1)
ENST00000648556.1:n.364G>C (ACTC1)
ENST00000650163.1:n.287G>C (ACTC1)
ENST00000290378.4:c.207G>C (ACTC1)	ENSP00000290378.4:p.Leu69=
NM_005159.4:c.207G>C , LRG_388t1:c.207G>C (ACTC1)	NP_005150.1:p.Leu69=
NR_120329.1:n.299+16061C>G (GJD2-DT)
NM_005159.5:c.207G>C (ACTC1) MANE Select	NP_005150.1:p.Leu69=