Canonical Allele Identifier: CA1474474550
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1164366862
gnomAD v4: 4-87811350-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811350G>A , CM000666.2:g.87811350G>A GRCh38
NC_000004.11:g.88732502G>A , CM000666.1:g.88732502G>A GRCh37
NC_000004.10:g.88951526G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.406-12G>A MANE Select ENSP00000226284.5:n.406-12G>A
ENST00000226284.6:c.406-12G>A ENSP00000226284.5:n.406-12G>A
NM_004967.3:c.406-12G>A NP_004958.2:n.406-12G>A
NM_004967.4:c.406-12G>A MANE Select NP_004958.2:n.406-12G>A
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