Canonical Allele Identifier: CA357620652
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811447A>T , CM000666.2:g.87811447A>T GRCh38
NC_000004.11:g.88732599A>T , CM000666.1:g.88732599A>T GRCh37
NC_000004.10:g.88951623A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.491A>T MANE Select ENSP00000226284.5:p.Glu164Val
ENST00000226284.6:c.491A>T ENSP00000226284.5:p.Glu164Val
NM_004967.3:c.491A>T NP_004958.2:p.Glu164Val
NM_004967.4:c.491A>T MANE Select NP_004958.2:p.Glu164Val