Canonical Allele Identifier: CA357620332
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811362G>C , CM000666.2:g.87811362G>C GRCh38
NC_000004.11:g.88732514G>C , CM000666.1:g.88732514G>C GRCh37
NC_000004.10:g.88951538G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.406G>C MANE Select ENSP00000226284.5:p.Ala136Pro
ENST00000226284.6:c.406G>C ENSP00000226284.5:p.Ala136Pro
NM_004967.3:c.406G>C NP_004958.2:p.Ala136Pro
NM_004967.4:c.406G>C MANE Select NP_004958.2:p.Ala136Pro