×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA447992867
Gene: PROP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1650618
ClinVar RCV Id:
RCV002144532
dbSNP Id:
rs1319229112
gnomAD v2:
5-177422836-G-C
gnomAD v3:
5-177995835-G-C
gnomAD v4:
5-177995835-G-C
MyVariant Identifiers:
chr5:g.177422836G>C (hg19)
chr5:g.177995835G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177995835G>C , CM000667.2:g.177995835G>C
GRCh38
NC_000005.9:g.177422836G>C , CM000667.1:g.177422836G>C
GRCh37
NC_000005.8:g.177355442G>C
NCBI36
NG_015889.1:g.5408C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000308304.2:c.99C>G
MANE Select
ENSP00000311290.2:p.Thr33=
NM_006261.4:c.99C>G
NP_006252.3:p.Thr33=
NM_006261.5:c.99C>G
MANE Select
NP_006252.4:p.Thr33=
Search 100 bp 5'
Search 100 bp 3'