Canonical Allele Identifier: CA367069272
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs1783808844
gnomAD v4: 7-27095713-T-G
MyVariant Identifiers: chr7:g.27135332T>G (hg19) chr7:g.27095713T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095713T>G , CM000669.2:g.27095713T>G GRCh38
NC_000007.13:g.27135332T>G , CM000669.1:g.27135332T>G GRCh37
NC_000007.12:g.27101857T>G NCBI36
NG_011813.1:g.5294A>C
NG_033087.1:g.4620T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.200A>C MANE Select ENSP00000494260.2:p.His67Pro
ENST00000343060.4:c.200A>C ENSP00000343246.4:p.His67Pro
ENST00000355633.5:c.200A>C ENSP00000347851.5:p.His67Pro
NM_005522.4:c.200A>C NP_005513.1:p.His67Pro
NM_153620.2:c.200A>C NP_705873.2:p.His67Pro
NM_005522.5:c.200A>C MANE Select NP_005513.2:p.His67Pro
NM_153620.3:c.200A>C NP_705873.3:p.His67Pro
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