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: CA372385719

Gene: SLURP1 HGNC NCBI

Linked Data

dbSNP Id: rs121908320

gnomAD v4: 8-142741159-C-A

MyVariant Identifiers: chr8:g.143822577C>A (hg19) chr8:g.142741159C>A (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142741159C>A , CM000670.2:g.142741159C>A	GRCh38
NC_000008.10:g.143822577C>A , CM000670.1:g.143822577C>A	GRCh37
NC_000008.9:g.143819579C>A	NCBI36
NG_011494.1:g.6253G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000246515.2:c.296G>T MANE Select	ENSP00000246515.1:p.Cys99Phe
ENST00000246515.1:c.296G>T	ENSP00000246515.1:p.Cys99Phe
NM_020427.2:c.296G>T	NP_065160.1:p.Cys99Phe
NM_020427.3:c.296G>T MANE Select	NP_065160.1:p.Cys99Phe

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