Canonical Allele Identifier: CA357620323
Gene: IBSP HGNC NCBI

Linked Data

gnomAD v4: 4-87811360-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811360A>G , CM000666.2:g.87811360A>G GRCh38
NC_000004.11:g.88732512A>G , CM000666.1:g.88732512A>G GRCh37
NC_000004.10:g.88951536A>G NCBI36

Transcript Alleles

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