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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:
CA342116
Gene: SLC16A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21463
ClinVar RCV Id:
RCV000020651
dbSNP Id:
rs113994162
MyVariant Identifiers:
chrX:g.73641831C>T (hg19)
chrX:g.74421996C>T (hg38)
PubMed:
PMID:20301789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.74421996C>T , CM000685.2:g.74421996C>T
GRCh38
NC_000023.10:g.73641831C>T , CM000685.1:g.73641831C>T
GRCh37
NC_000023.9:g.73558556C>T
NCBI36
NG_011641.1:g.5747C>T
NG_011641.2:g.5747C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000587091.6:c.359C>T
MANE Select
ENSP00000465734.1:p.Ser120Phe
ENST00000636771.1:c.105C>T
ENST00000587091.5:c.359C>T
ENSP00000465734.1:p.Ser120Phe
NM_006517.4:c.359C>T
NP_006508.2:p.Ser120Phe
XM_005262294.1:c.359C>T
XP_005262351.1:p.Ser120Phe
XM_011531015.1:c.359C>T
XP_011529317.1:p.Ser120Phe
NM_006517.5:c.359C>T
MANE Select
NP_006508.2:p.Ser120Phe
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