Canonical Allele Identifier: CA367068475
Gene: HOXA1 HGNC NCBI

Linked Data

gnomAD v4: 7-27095431-T-A
MyVariant Identifiers: chr7:g.27135050T>A (hg19) chr7:g.27095431T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095431T>A , CM000669.2:g.27095431T>A GRCh38
NC_000007.13:g.27135050T>A , CM000669.1:g.27135050T>A GRCh37
NC_000007.12:g.27101575T>A NCBI36
NG_011813.1:g.5576A>T
NG_033087.1:g.4338T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.482A>T MANE Select ENSP00000494260.2:p.His161Leu
ENST00000343060.4:c.482A>T ENSP00000343246.4:p.His161Leu
ENST00000355633.5:c.355-76A>T ENSP00000347851.5:n.355-76A>T
NM_005522.4:c.482A>T NP_005513.1:p.His161Leu
NM_153620.2:c.355-76A>T NP_705873.2:n.355-76A>T
NM_005522.5:c.482A>T MANE Select NP_005513.2:p.His161Leu
NM_153620.3:c.355-76A>T NP_705873.3:n.355-76A>T
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