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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:
CA347952326
Gene: SLC9A4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.103149116G>C (hg19)
chr2:g.102532657G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102532657G>C , CM000664.2:g.102532657G>C
GRCh38
NC_000002.11:g.103149116G>C , CM000664.1:g.103149116G>C
GRCh37
NC_000002.10:g.102515548G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000295269.5:c.2366G>C
MANE Select
ENSP00000295269.4:p.Arg789Thr
ENST00000295269.4:c.2366G>C
ENSP00000295269.4:p.Arg789Thr
NM_001011552.3:c.2366G>C
NP_001011552.2:p.Arg789Thr
XM_011511158.1:c.2279G>C
XP_011509460.1:p.Arg760Thr
NM_001011552.4:c.2366G>C
MANE Select
NP_001011552.2:p.Arg789Thr
Search 100 bp 5'
Search 100 bp 3'