Canonical Allele Identifier: CA1474474597
Gene: IBSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811462T= , CM000666.2:g.87811462T= GRCh38
NC_000004.11:g.88732614T= , CM000666.1:g.88732614T= GRCh37
NC_000004.10:g.88951638T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.506T= MANE Select ENSP00000226284.5:p.Val169=
ENST00000226284.6:c.506T= ENSP00000226284.5:p.Val169=
NM_004967.3:c.506T= NP_004958.2:p.Val169=
NM_004967.4:c.506T= MANE Select NP_004958.2:p.Val169=