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: CA805180112

Gene: PRELID2 HGNC NCBI

Linked Data

dbSNP Id: rs1292200284

MyVariant Identifiers: chr5:g.145038781T>G (hg19) chr5:g.145659218T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.145659218T>G , CM000667.2:g.145659218T>G	GRCh38
NC_000005.9:g.145038781T>G , CM000667.1:g.145038781T>G	GRCh37
NC_000005.8:g.145018974T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000510259.5:n.70+105713A>C
XR_944308.1:n.662+105713A>C
XM_017009130.1:c.*6138A>C	XP_016864619.1:n.*6138A>C
XM_017009133.1:c.*6170A>C	XP_016864622.1:n.*6170A>C
XR_001742025.1:n.913+44757A>C

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