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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:
CA367069487
Gene: HOXA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.27135398T>A (hg19)
chr7:g.27095779T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27095779T>A , CM000669.2:g.27095779T>A
GRCh38
NC_000007.13:g.27135398T>A , CM000669.1:g.27135398T>A
GRCh37
NC_000007.12:g.27101923T>A
NCBI36
NG_011813.1:g.5228A>T
NG_033087.1:g.4686T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000643460.2:c.134A>T
MANE Select
ENSP00000494260.2:p.Asn45Ile
ENST00000343060.4:c.134A>T
ENSP00000343246.4:p.Asn45Ile
ENST00000355633.5:c.134A>T
ENSP00000347851.5:p.Asn45Ile
NM_005522.4:c.134A>T
NP_005513.1:p.Asn45Ile
NM_153620.2:c.134A>T
NP_705873.2:p.Asn45Ile
NM_005522.5:c.134A>T
MANE Select
NP_005513.2:p.Asn45Ile
NM_153620.3:c.134A>T
NP_705873.3:p.Asn45Ile
Search 100 bp 5'
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