Canonical Allele Identifier: CA357620683
Gene: IBSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811456C>G , CM000666.2:g.87811456C>G GRCh38
NC_000004.11:g.88732608C>G , CM000666.1:g.88732608C>G GRCh37
NC_000004.10:g.88951632C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.500C>G MANE Select ENSP00000226284.5:p.Ala167Gly
ENST00000226284.6:c.500C>G ENSP00000226284.5:p.Ala167Gly
NM_004967.3:c.500C>G NP_004958.2:p.Ala167Gly
NM_004967.4:c.500C>G MANE Select NP_004958.2:p.Ala167Gly