Canonical Allele Identifier: CA4195993
Gene: HOXA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369585
ClinVar RCV Id: RCV000391664
dbSNP Id: rs10951154

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095695C>T , CM000669.2:g.27095695C>T GRCh38
NC_000007.13:g.27135314C>T , CM000669.1:g.27135314C>T GRCh37
NC_000007.12:g.27101839C>T NCBI36
NG_011813.1:g.5312G>A
NG_033087.1:g.4602C>T

Transcript Alleles

HGVS Amino-acid change
NM_005522.4:c.218G>A VV NP_005513.1:p.His73=
NM_153620.2:c.218G>A VV NP_705873.2:p.His73=
ENST00000343060.4:c.218G>A ENSP00000343246.4:p.Arg73His
ENST00000355633.5:c.218G>A ENSP00000347851.5:p.Arg73His