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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:
CA10575187
Gene: RPS4Y2
HGNC
NCBI
Linked Data
dbSNP Id:
rs778852565
ExAC:
Y:22921781 A / C
gnomAD v2:
Y-22921781-A-C
MyVariant Identifiers:
chrY:g.22921781A>C (hg19)
chrY:g.20759895A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20759895A>C , CM000686.2:g.20759895A>C
GRCh38
NC_000024.9:g.22921781A>C , CM000686.1:g.22921781A>C
GRCh37
NC_000024.8:g.21331169A>C
NCBI36
NG_032924.1:g.8828A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000629237.2:c.109A>C
MANE Select
ENSP00000486252.1:p.Lys37Gln
ENST00000629237.1:c.109A>C
ENSP00000486252.1:p.Lys37Gln
NM_001039567.2:c.109A>C
NP_001034656.1:p.Lys37Gln
XM_011531423.1:c.58A>C
XP_011529725.1:p.Lys20Gln
NM_001039567.3:c.109A>C
MANE Select
NP_001034656.1:p.Lys37Gln
Search 100 bp 5'
Search 100 bp 3'