Canonical Allele Identifier: CA3002428
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1054627

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811540G>A , CM000666.2:g.87811540G>A GRCh38
NC_000004.11:g.88732692G>A , CM000666.1:g.88732692G>A GRCh37
NC_000004.10:g.88951716G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.584G>A MANE Select ENSP00000226284.5:p.Gly195Glu
ENST00000226284.6:c.584G>A ENSP00000226284.5:p.Gly195Glu
NM_004967.3:c.584G>A NP_004958.2:p.Gly195Glu
NM_004967.4:c.584G>A MANE Select NP_004958.2:p.Gly195Glu