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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA238853
Gene: PROP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193335
ClinVar RCV Id:
RCV000173400
RCV001152648
dbSNP Id:
rs144314831
ExAC:
5:177422839 C / T
gnomAD v2:
5-177422839-C-T
gnomAD v3:
5-177995838-C-T
gnomAD v4:
5-177995838-C-T
MyVariant Identifiers:
chr5:g.177422839C>T (hg19)
chr5:g.177995838C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177995838C>T , CM000667.2:g.177995838C>T
GRCh38
NC_000005.9:g.177422839C>T , CM000667.1:g.177422839C>T
GRCh37
NC_000005.8:g.177355445C>T
NCBI36
NG_015889.1:g.5405G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000308304.2:c.96G>A
MANE Select
ENSP00000311290.2:p.Pro32=
NM_006261.4:c.96G>A
NP_006252.3:p.Pro32=
NM_006261.5:c.96G>A
MANE Select
NP_006252.4:p.Pro32=
Search 100 bp 5'
Search 100 bp 3'