Canonical Allele Identifier: CA454507737
Gene: HOXA1 HGNC NCBI

Linked Data

gnomAD v4: 7-27095469-A-G
MyVariant Identifiers: chr7:g.27135088A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095469A>G , CM000669.2:g.27095469A>G GRCh38
NC_000007.13:g.27135088A>G , CM000669.1:g.27135088A>G GRCh37
NC_000007.12:g.27101613A>G NCBI36
NG_011813.1:g.5538T>C
NG_033087.1:g.4376A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.444T>C MANE Select ENSP00000494260.2:p.Gly148=
ENST00000343060.4:c.444T>C ENSP00000343246.4:p.Gly148=
ENST00000355633.5:c.354+90T>C ENSP00000347851.5:n.354+90T>C
NM_005522.4:c.444T>C NP_005513.1:p.Gly148=
NM_153620.2:c.354+90T>C NP_705873.2:n.354+90T>C
NM_005522.5:c.444T>C MANE Select NP_005513.2:p.Gly148=
NM_153620.3:c.354+90T>C NP_705873.3:n.354+90T>C