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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:
CA359307490
Gene: PRDM9
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.23509145G>C (hg19)
chr5:g.23509036G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.23509036G>C , CM000667.2:g.23509036G>C
GRCh38
NC_000005.9:g.23509145G>C , CM000667.1:g.23509145G>C
GRCh37
NC_000005.8:g.23544902G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000502755.6:c.3G>C
ENSP00000425471.2:p.Met1Ile
ENST00000296682.4:c.3G>C
MANE Select
ENSP00000296682.4:p.Met1Ile
ENST00000296682.3:c.3G>C
ENSP00000296682.3:p.Met1Ile
ENST00000502755.5:c.3G>C
ENSP00000425471.1:p.Met1Ile
ENST00000635252.1:c.17-884G>C
ENSP00000489227.1:n.17-884G>C
NM_020227.2:c.3G>C
NP_064612.2:p.Met1Ile
NM_020227.3:c.3G>C
NP_064612.2:p.Met1Ile
NM_001376900.1:c.3G>C
NP_001363829.1:p.Met1Ile
NM_020227.4:c.3G>C
MANE Select
NP_064612.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'