Canonical Allele Identifier: CA357620346
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs762327098
gnomAD v4: 4-87811366-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811366G>C , CM000666.2:g.87811366G>C GRCh38
NC_000004.11:g.88732518G>C , CM000666.1:g.88732518G>C GRCh37
NC_000004.10:g.88951542G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.410G>C MANE Select ENSP00000226284.5:p.Gly137Ala
ENST00000226284.6:c.410G>C ENSP00000226284.5:p.Gly137Ala
NM_004967.3:c.410G>C NP_004958.2:p.Gly137Ala
NM_004967.4:c.410G>C MANE Select NP_004958.2:p.Gly137Ala