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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:
CA272493
Gene: SLC16A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159906
ClinVar RCV Id:
RCV000147498
dbSNP Id:
rs587784386
MyVariant Identifiers:
chrX:g.73641749C>T (hg19)
chrX:g.74421914C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.74421914C>T , CM000685.2:g.74421914C>T
GRCh38
NC_000023.10:g.73641749C>T , CM000685.1:g.73641749C>T
GRCh37
NC_000023.9:g.73558474C>T
NCBI36
NG_011641.1:g.5665C>T
NG_011641.2:g.5665C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000587091.6:c.277C>T
MANE Select
ENSP00000465734.1:p.Gln93Ter
ENST00000636771.1:c.23C>T
ENST00000587091.5:c.277C>T
ENSP00000465734.1:p.Gln93Ter
NM_006517.4:c.277C>T
NP_006508.2:p.Gln93Ter
XM_005262294.1:c.277C>T
XP_005262351.1:p.Gln93Ter
XM_011531015.1:c.277C>T
XP_011529317.1:p.Gln93Ter
NM_006517.5:c.277C>T
MANE Select
NP_006508.2:p.Gln93Ter
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