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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:
CA361490659
Gene: PURA
HGNC
NCBI
Linked Data
dbSNP Id:
rs1259966514
gnomAD v2:
5-139494155-C-T
gnomAD v3:
5-140114570-C-T
gnomAD v4:
5-140114570-C-T
MyVariant Identifiers:
chr5:g.139494155C>T (hg19)
chr5:g.140114570C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.140114570C>T , CM000667.2:g.140114570C>T
GRCh38
NC_000005.9:g.139494155C>T , CM000667.1:g.139494155C>T
GRCh37
NC_000005.8:g.139474339C>T
NCBI36
NG_041813.1:g.5448C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000331327.5:c.389C>T
MANE Select
ENSP00000332706.3:p.Pro130Leu
ENST00000651386.1:c.389C>T
ENSP00000499133.1:p.Pro130Leu
ENST00000331327.4:c.389C>T
ENSP00000332706.3:p.Pro130Leu
NM_005859.4:c.389C>T
NP_005850.1:p.Pro130Leu
NM_005859.5:c.389C>T
MANE Select
NP_005850.1:p.Pro130Leu
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