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: CA10645758

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 315669

ClinVar RCV Id: RCV000378028 RCV000404160

dbSNP Id: rs116034611

gnomAD v2: 15-35081609-T-C

gnomAD v3: 15-34789408-T-C

gnomAD v4: 15-34789408-T-C

MyVariant Identifiers: chr15:g.35081609T>C (hg19) chr15:g.34789408T>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789408T>C , CM000677.2:g.34789408T>C	GRCh38
NC_000015.9:g.35081609T>C , CM000677.1:g.35081609T>C	GRCh37
NC_000015.8:g.32868901T>C	NCBI36
NG_007553.1:g.11319A>G , LRG_388:g.11319A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290378.4:c.*1004A>G (ACTC1)	ENSP00000290378.4:n.*1004A>G
NM_005159.4:c.1004A>G , LRG_388t1:c.1004A>G (ACTC1)	NP_005150.1:n.*1004A>G
NR_120329.1:n.299+11977T>C (GJD2-DT)

Search 100 bp 5'

Search 100 bp 3'