Canonical Allele Identifier: CA357620705
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.506T>A MANE Select ENSP00000226284.5:p.Val169Glu
ENST00000226284.6:c.506T>A ENSP00000226284.5:p.Val169Glu
NM_004967.3:c.506T>A NP_004958.2:p.Val169Glu
NM_004967.4:c.506T>A MANE Select NP_004958.2:p.Val169Glu