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: CA489655436

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 759782

ClinVar RCV Id: RCV001176028 RCV001405108

dbSNP Id: rs1595760934

gnomAD v4: 15-34792454-G-A

MyVariant Identifiers: chr15:g.35084655G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792454G>A , CM000677.2:g.34792454G>A	GRCh38
NC_000015.9:g.35084655G>A , CM000677.1:g.35084655G>A	GRCh37
NC_000015.8:g.32871947G>A	NCBI36
NG_007553.1:g.8273C>T , LRG_388:g.8273C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.676C>T (ACTC1)
ENST00000290378.6:c.570C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Tyr190=
ENST00000647798.1:n.664C>T (ACTC1)
ENST00000648556.1:n.727C>T (ACTC1)
ENST00000650163.1:n.650C>T (ACTC1)
ENST00000290378.4:c.570C>T (ACTC1)	ENSP00000290378.4:p.Tyr190=
ENST00000557860.1:n.260C>T (ACTC1)
ENST00000560563.1:n.69C>T (ACTC1)
NM_005159.4:c.570C>T , LRG_388t1:c.570C>T (ACTC1)	NP_005150.1:p.Tyr190=
NR_120329.1:n.299+15023G>A (GJD2-DT)
NM_005159.5:c.570C>T (ACTC1) MANE Select	NP_005150.1:p.Tyr190=