Canonical Allele Identifier: CA367069182
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs10951154
gnomAD v3: 7-27095695-C-G
gnomAD v4: 7-27095695-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095695C>G , CM000669.2:g.27095695C>G GRCh38
NC_000007.13:g.27135314C>G , CM000669.1:g.27135314C>G GRCh37
NC_000007.12:g.27101839C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.218G>C MANE Select ENSP00000494260.2:p.Arg73Pro
ENST00000343060.4:c.218G>C ENSP00000343246.4:p.Arg73Pro
ENST00000355633.5:c.218G>C ENSP00000347851.5:p.Arg73Pro
NM_005522.5:c.218G>C MANE Select NP_005513.2:p.Arg73Pro
NM_153620.3:c.218G>C NP_705873.3:p.Arg73Pro