Canonical Allele Identifier: CA357620692
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811459A>C , CM000666.2:g.87811459A>C GRCh38
NC_000004.11:g.88732611A>C , CM000666.1:g.88732611A>C GRCh37
NC_000004.10:g.88951635A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.503A>C MANE Select ENSP00000226284.5:p.Glu168Ala
ENST00000226284.6:c.503A>C ENSP00000226284.5:p.Glu168Ala
NM_004967.3:c.503A>C NP_004958.2:p.Glu168Ala
NM_004967.4:c.503A>C MANE Select NP_004958.2:p.Glu168Ala