Canonical Allele Identifier: CA357620688
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811458G>A , CM000666.2:g.87811458G>A GRCh38
NC_000004.11:g.88732610G>A , CM000666.1:g.88732610G>A GRCh37
NC_000004.10:g.88951634G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.502G>A MANE Select ENSP00000226284.5:p.Glu168Lys
ENST00000226284.6:c.502G>A ENSP00000226284.5:p.Glu168Lys
NM_004967.3:c.502G>A NP_004958.2:p.Glu168Lys
NM_004967.4:c.502G>A MANE Select NP_004958.2:p.Glu168Lys