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: CA243390

Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196433

ClinVar RCV Id: RCV000177254 RCV001274068 RCV003937597

dbSNP Id: rs758911793

ExAC: 5:177419935 A / G

gnomAD v2: 5-177419935-A-G

gnomAD v3: 5-177992934-A-G

gnomAD v4: 5-177992934-A-G

MyVariant Identifiers: chr5:g.177419935A>G (hg19) chr5:g.177992934A>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992934A>G , CM000667.2:g.177992934A>G	GRCh38
NC_000005.9:g.177419935A>G , CM000667.1:g.177419935A>G	GRCh37
NC_000005.8:g.177352541A>G	NCBI36
NG_015889.1:g.8309T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000308304.2:c.456T>C MANE Select	ENSP00000311290.2:p.Ala152=
NM_006261.4:c.456T>C	NP_006252.3:p.Ala152=
NM_006261.5:c.456T>C MANE Select	NP_006252.4:p.Ala152=

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