Canonical Allele Identifier: CA357620337
Gene: IBSP HGNC NCBI

Linked Data

gnomAD v4: 4-87811363-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.407C>G MANE Select ENSP00000226284.5:p.Ala136Gly
ENST00000226284.6:c.407C>G ENSP00000226284.5:p.Ala136Gly
NM_004967.3:c.407C>G NP_004958.2:p.Ala136Gly
NM_004967.4:c.407C>G MANE Select NP_004958.2:p.Ala136Gly