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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:
CA347951988
Gene: SLC9A4
HGNC
NCBI
Linked Data
COSMIC:
COSM2980868
MyVariant Identifiers:
chr2:g.103149004C>T (hg19)
chr2:g.102532545C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102532545C>T , CM000664.2:g.102532545C>T
GRCh38
NC_000002.11:g.103149004C>T , CM000664.1:g.103149004C>T
GRCh37
NC_000002.10:g.102515436C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000295269.5:c.2254C>T
MANE Select
ENSP00000295269.4:p.His752Tyr
ENST00000295269.4:c.2254C>T
ENSP00000295269.4:p.His752Tyr
NM_001011552.3:c.2254C>T
NP_001011552.2:p.His752Tyr
XM_011511158.1:c.2167C>T
XP_011509460.1:p.His723Tyr
NM_001011552.4:c.2254C>T
MANE Select
NP_001011552.2:p.His752Tyr
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