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: CA019819

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 180758

ClinVar RCV Id: RCV000157783

dbSNP Id: rs730880393

MyVariant Identifiers: chr15:g.35084684C>G (hg19) chr15:g.34792483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792483C>G , CM000677.2:g.34792483C>G	GRCh38
NC_000015.9:g.35084684C>G , CM000677.1:g.35084684C>G	GRCh37
NC_000015.8:g.32871976C>G	NCBI36
NG_007553.1:g.8244G>C , LRG_388:g.8244G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.647G>C (ACTC1)
ENST00000290378.6:c.541G>C (ACTC1) MANE Select	ENSP00000290378.4:p.Asp181His
ENST00000647798.1:n.635G>C (ACTC1)
ENST00000648556.1:n.698G>C (ACTC1)
ENST00000650163.1:n.621G>C (ACTC1)
ENST00000290378.4:c.541G>C (ACTC1)	ENSP00000290378.4:p.Asp181His
ENST00000557860.1:n.231G>C (ACTC1)
ENST00000560563.1:n.40G>C (ACTC1)
NM_005159.4:c.541G>C , LRG_388t1:c.541G>C (ACTC1)	NP_005150.1:p.Asp181His
NR_120329.1:n.299+15052C>G (GJD2-DT)
NM_005159.5:c.541G>C (ACTC1) MANE Select	NP_005150.1:p.Asp181His