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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:
CA343237225
Gene: ATP1A2
HGNC
NCBI
Linked Data
COSMIC:
COSM5378137
MyVariant Identifiers:
chr1:g.160097383G>A (hg19)
chr1:g.160127593G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.160127593G>A , CM000663.2:g.160127593G>A
GRCh38
NC_000001.10:g.160097383G>A , CM000663.1:g.160097383G>A
GRCh37
NC_000001.9:g.158364007G>A
NCBI36
NG_008014.1:g.16836G>A , LRG_6:g.16836G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000361216.8:c.790G>A
MANE Select
ENSP00000354490.3:p.Val264Met
ENST00000361216.7:c.790G>A
ENSP00000354490.3:p.Val264Met
ENST00000392233.7:c.790G>A
ENSP00000376066.3:p.Val264Met
ENST00000472488.5:n.893G>A
NM_000702.3:c.790G>A
NP_000693.1:p.Val264Met
NM_000702.4:c.790G>A
MANE Select
NP_000693.1:p.Val264Met
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