Canonical Allele Identifier: CA357620338
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811363C>T , CM000666.2:g.87811363C>T GRCh38
NC_000004.11:g.88732515C>T , CM000666.1:g.88732515C>T GRCh37
NC_000004.10:g.88951539C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.407C>T MANE Select ENSP00000226284.5:p.Ala136Val
ENST00000226284.6:c.407C>T ENSP00000226284.5:p.Ala136Val
NM_004967.3:c.407C>T NP_004958.2:p.Ala136Val
NM_004967.4:c.407C>T MANE Select NP_004958.2:p.Ala136Val