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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:
CA4195932
Gene: HOXA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs768113272
ExAC:
7:27135056 T / C
gnomAD v2:
7-27135056-T-C
gnomAD v3:
7-27095437-T-C
gnomAD v4:
7-27095437-T-C
MyVariant Identifiers:
chr7:g.27135056T>C (hg19)
chr7:g.27095437T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27095437T>C , CM000669.2:g.27095437T>C
GRCh38
NC_000007.13:g.27135056T>C , CM000669.1:g.27135056T>C
GRCh37
NC_000007.12:g.27101581T>C
NCBI36
NG_011813.1:g.5570A>G
NG_033087.1:g.4344T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000643460.2:c.476A>G
MANE Select
ENSP00000494260.2:p.Tyr159Cys
ENST00000343060.4:c.476A>G
ENSP00000343246.4:p.Tyr159Cys
ENST00000355633.5:c.355-82A>G
ENSP00000347851.5:n.355-82A>G
NM_005522.4:c.476A>G
NP_005513.1:p.Tyr159Cys
NM_153620.2:c.355-82A>G
NP_705873.2:n.355-82A>G
NM_005522.5:c.476A>G
MANE Select
NP_005513.2:p.Tyr159Cys
NM_153620.3:c.355-82A>G
NP_705873.3:n.355-82A>G
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