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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:
CA414911909
Gene: F8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.154185357A>C (hg19)
chrX:g.154957082A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154957082A>C , CM000685.2:g.154957082A>C
GRCh38
NC_000023.10:g.154185357A>C , CM000685.1:g.154185357A>C
GRCh37
NC_000023.9:g.153838551A>C
NCBI36
NG_011403.1:g.70642T>G
NG_011403.2:g.70642T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.1627T>G
MANE Select
ENSP00000353393.4:p.Ser543Ala
ENST00000647125.1:c.*1503T>G
ENSP00000496062.1:n.*1503T>G
ENST00000360256.8:c.1627T>G
ENSP00000353393.4:p.Ser543Ala
NM_000132.3:c.1627T>G
NP_000123.1:p.Ser543Ala
XM_011531126.1:c.1522T>G
XP_011529428.1:p.Ser508Ala
NM_000132.4:c.1627T>G
MANE Select
NP_000123.1:p.Ser543Ala
Search 100 bp 5'
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