Canonical Allele Identifier: CA440295366
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1264564838
gnomAD v2: 4-88732519-G-A
gnomAD v4: 4-87811367-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811367G>A , CM000666.2:g.87811367G>A GRCh38
NC_000004.11:g.88732519G>A , CM000666.1:g.88732519G>A GRCh37
NC_000004.10:g.88951543G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.411G>A MANE Select ENSP00000226284.5:p.Gly137=
ENST00000226284.6:c.411G>A ENSP00000226284.5:p.Gly137=
NM_004967.3:c.411G>A NP_004958.2:p.Gly137=
NM_004967.4:c.411G>A MANE Select NP_004958.2:p.Gly137=