Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA391629570

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2953358

ClinVar RCV Id: RCV003810476

MyVariant Identifiers: chr15:g.35083451A>C (hg19) chr15:g.34791250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791250A>C , CM000677.2:g.34791250A>C	GRCh38
NC_000015.9:g.35083451A>C , CM000677.1:g.35083451A>C	GRCh37
NC_000015.8:g.32870743A>C	NCBI36
NG_007553.1:g.9477T>G , LRG_388:g.9477T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1754T>G (ACTC1)
ENST00000290378.6:c.854T>G (ACTC1) MANE Select	ENSP00000290378.4:p.Met285Arg
ENST00000647798.1:n.948T>G (ACTC1)
ENST00000650163.1:n.934T>G (ACTC1)
ENST00000290378.4:c.854T>G (ACTC1)	ENSP00000290378.4:p.Met285Arg
ENST00000557860.1:n.544T>G (ACTC1)
NM_005159.4:c.854T>G , LRG_388t1:c.854T>G (ACTC1)	NP_005150.1:p.Met285Arg
NR_120329.1:n.299+13819A>C (GJD2-DT)
NM_005159.5:c.854T>G (ACTC1) MANE Select	NP_005150.1:p.Met285Arg