Canonical Allele Identifier: CA357621017
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811542G>A , CM000666.2:g.87811542G>A GRCh38
NC_000004.11:g.88732694G>A , CM000666.1:g.88732694G>A GRCh37
NC_000004.10:g.88951718G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.586G>A MANE Select ENSP00000226284.5:p.Asp196Asn
ENST00000226284.6:c.586G>A ENSP00000226284.5:p.Asp196Asn
NM_004967.3:c.586G>A NP_004958.2:p.Asp196Asn
NM_004967.4:c.586G>A MANE Select NP_004958.2:p.Asp196Asn