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.

Canonical Allele Identifier: CA391633249

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 520286

ClinVar RCV Id: RCV000620164

dbSNP Id: rs1555419008

MyVariant Identifiers: chr15:g.35086941A>C (hg19) chr15:g.34794740A>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794740A>C , CM000677.2:g.34794740A>C	GRCh38
NC_000015.9:g.35086941A>C , CM000677.1:g.35086941A>C	GRCh37
NC_000015.8:g.32874233A>C	NCBI36
NG_007553.1:g.5987T>G , LRG_388:g.5987T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.175T>G (ACTC1)
ENST00000290378.6:c.69T>G (ACTC1) MANE Select	ENSP00000290378.4:p.Phe23Leu
ENST00000290378.4:c.69T>G (ACTC1)	ENSP00000290378.4:p.Phe23Leu
NM_005159.4:c.69T>G , LRG_388t1:c.69T>G (ACTC1)	NP_005150.1:p.Phe23Leu
NR_120329.1:n.300-15756A>C (GJD2-DT)
NM_005159.5:c.69T>G (ACTC1) MANE Select	NP_005150.1:p.Phe23Leu

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