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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:
CA338991085
Gene: RPL11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532178
ClinVar RCV Id:
RCV000638826
dbSNP Id:
rs1553121574
MyVariant Identifiers:
chr1:g.24018317G>T (hg19)
chr1:g.23691827G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.23691827G>T , CM000663.2:g.23691827G>T
GRCh38
NC_000001.10:g.24018317G>T , CM000663.1:g.24018317G>T
GRCh37
NC_000001.9:g.23890904G>T
NCBI36
NG_011741.1:g.5024G>T
NG_011741.2:g.5049G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374550.8:c.4G>T
ENSP00000363676.4:p.Ala2Ser
ENST00000443624.6:n.22G>T
ENST00000467075.2:c.4G>T
ENSP00000493634.1:p.Ala2Ser
ENST00000643754.2:c.4G>T
MANE Select
ENSP00000496250.1:p.Ala2Ser
ENST00000374550.7:c.4G>T
ENSP00000363676.3:p.Ala2Ser
NM_000975.3:c.4G>T
NP_000966.2:p.Ala2Ser
NM_001199802.1:c.4G>T
NP_001186731.1:p.Ala2Ser
NM_000975.5:c.4G>T
MANE Select
NP_000966.2:p.Ala2Ser
Search 100 bp 5'
Search 100 bp 3'