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: CA10646828

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315648

ClinVar RCV Id: RCV000294075 RCV000352639

dbSNP Id: rs886051062

gnomAD v2: 15-35080626-C-T

gnomAD v3: 15-34788425-C-T

gnomAD v4: 15-34788425-C-T

MyVariant Identifiers: chr15:g.35080626C>T (hg19) chr15:g.34788425C>T (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788425C>T , CM000677.2:g.34788425C>T	GRCh38
NC_000015.9:g.35080626C>T , CM000677.1:g.35080626C>T	GRCh37
NC_000015.8:g.32867918C>T	NCBI36
NG_007553.1:g.12302G>A , LRG_388:g.12302G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*1987G>A (ACTC1)	ENSP00000290378.4:n.*1987G>A
NM_005159.4:c.1987G>A , LRG_388t1:c.1987G>A (ACTC1)	NP_005150.1:n.*1987G>A
NR_120329.1:n.299+10994C>T (GJD2-DT)

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