Canonical Allele Identifier: CA2578140097
Gene: IBSP HGNC NCBI

Linked Data

gnomAD v4: 4-87811345-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811345C>A , CM000666.2:g.87811345C>A GRCh38
NC_000004.11:g.88732497C>A , CM000666.1:g.88732497C>A GRCh37
NC_000004.10:g.88951521C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.406-17C>A MANE Select ENSP00000226284.5:n.406-17C>A
ENST00000226284.6:c.406-17C>A ENSP00000226284.5:n.406-17C>A
NM_004967.3:c.406-17C>A NP_004958.2:n.406-17C>A
NM_004967.4:c.406-17C>A MANE Select NP_004958.2:n.406-17C>A