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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:
CA10575171
Gene: RPS4Y2
HGNC
NCBI
Linked Data
dbSNP Id:
rs776782650
ExAC:
Y:22918680 A / C
gnomAD v2:
Y-22918680-A-C
MyVariant Identifiers:
chrY:g.22918680A>C (hg19)
chrY:g.20756794A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20756794A>C , CM000686.2:g.20756794A>C
GRCh38
NC_000024.9:g.22918680A>C , CM000686.1:g.22918680A>C
GRCh37
NC_000024.8:g.21328068A>C
NCBI36
NG_032924.1:g.5727A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000629237.2:c.20A>C
MANE Select
ENSP00000486252.1:p.Lys7Thr
ENST00000629237.1:c.20A>C
ENSP00000486252.1:p.Lys7Thr
NM_001039567.2:c.20A>C
NP_001034656.1:p.Lys7Thr
XM_011531423.1:c.-201A>C
XP_011529725.1:n.-201A>C
NM_001039567.3:c.20A>C
MANE Select
NP_001034656.1:p.Lys7Thr
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