Canonical Allele Identifier: CA357620344
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1722167318
gnomAD v4: 4-87811365-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811365G>A , CM000666.2:g.87811365G>A GRCh38
NC_000004.11:g.88732517G>A , CM000666.1:g.88732517G>A GRCh37
NC_000004.10:g.88951541G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.409G>A MANE Select ENSP00000226284.5:p.Gly137Arg
ENST00000226284.6:c.409G>A ENSP00000226284.5:p.Gly137Arg
NM_004967.3:c.409G>A NP_004958.2:p.Gly137Arg
NM_004967.4:c.409G>A MANE Select NP_004958.2:p.Gly137Arg