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: CA129534361

Gene: PRELID2 HGNC NCBI

Linked Data

dbSNP Id: rs962761784

gnomAD v3: 5-145659236-G-A

gnomAD v4: 5-145659236-G-A

MyVariant Identifiers: chr5:g.145038799G>A (hg19) chr5:g.145659236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.145659236G>A , CM000667.2:g.145659236G>A	GRCh38
NC_000005.9:g.145038799G>A , CM000667.1:g.145038799G>A	GRCh37
NC_000005.8:g.145018992G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000510259.5:n.70+105695C>T
XR_944308.1:n.662+105695C>T
XM_017009130.1:c.*6120C>T	XP_016864619.1:n.*6120C>T
XM_017009133.1:c.*6152C>T	XP_016864622.1:n.*6152C>T
XR_001742025.1:n.913+44739C>T

Search 100 bp 5'

Search 100 bp 3'