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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:
CA414858167
Gene: RPS4Y2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrY:g.22921758C>A (hg19)
chrY:g.20759872C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20759872C>A , CM000686.2:g.20759872C>A
GRCh38
NC_000024.9:g.22921758C>A , CM000686.1:g.22921758C>A
GRCh37
NC_000024.8:g.21331146C>A
NCBI36
NG_032924.1:g.8805C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000629237.2:c.86C>A
MANE Select
ENSP00000486252.1:p.Pro29His
ENST00000629237.1:c.86C>A
ENSP00000486252.1:p.Pro29His
NM_001039567.2:c.86C>A
NP_001034656.1:p.Pro29His
XM_011531423.1:c.35C>A
XP_011529725.1:p.Pro12His
NM_001039567.3:c.86C>A
MANE Select
NP_001034656.1:p.Pro29His
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