Canonical Allele Identifier: CA357621042
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811547T>A , CM000666.2:g.87811547T>A GRCh38
NC_000004.11:g.88732699T>A , CM000666.1:g.88732699T>A GRCh37
NC_000004.10:g.88951723T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.591T>A MANE Select ENSP00000226284.5:p.Asn197Lys
ENST00000226284.6:c.591T>A ENSP00000226284.5:p.Asn197Lys
NM_004967.3:c.591T>A NP_004958.2:p.Asn197Lys
NM_004967.4:c.591T>A MANE Select NP_004958.2:p.Asn197Lys