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: CA780892660

Gene: MIR3976HG HGNC NCBI

Linked Data

dbSNP Id: rs1276701351

gnomAD v3: 18-5857104-G-A

gnomAD v4: 18-5857104-G-A

MyVariant Identifiers: chr18:g.5857103G>A (hg19) chr18:g.5857104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.5857104G>A , CM000680.2:g.5857104G>A	GRCh38
NC_000018.9:g.5857103G>A , CM000680.1:g.5857103G>A	GRCh37
NC_000018.8:g.5847103G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_172494.1:n.603-21339G>A
NR_172495.1:n.603-19149G>A
NR_172496.1:n.603-19149G>A
NR_172497.1:n.603-19149G>A
NR_172498.1:n.663-10009G>A
NR_172499.1:n.603-19149G>A
NR_172500.1:n.603-19149G>A
NR_172501.1:n.603-19149G>A
NR_172502.1:n.603-19149G>A
NR_172503.1:n.603-19149G>A

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