Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA305287212

Gene: LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430740

ClinVar RCV Id: RCV000495906 RCV001192182

dbSNP Id: rs989307060

gnomAD v3: 19-11089263-C-G

gnomAD v4: 19-11089263-C-G

MyVariant Identifiers: chr19:g.11199939C>G (hg19) chr19:g.11089263C>G (hg38)

ERepo: CA305287212/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089263C>G , CM000681.2:g.11089263C>G	GRCh38
NC_000019.9:g.11199939C>G , CM000681.1:g.11199939C>G	GRCh37
NC_000019.8:g.11060939C>G	NCBI36
NG_009060.1:g.4883C>G , LRG_274:g.4883C>G

Transcript Alleles

HGVS	Amino-acid Change
NR_163945.1:n.397G>C

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