Canonical Allele Identifier: CA3002402
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs761081304
ExAC: 4:88732608 C / A
gnomAD v2: 4-88732608-C-A
gnomAD v4: 4-87811456-C-A
MyVariant Identifiers: chr4:g.88732608C>A (hg19) chr4:g.87811456C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.500C>A MANE Select ENSP00000226284.5:p.Ala167Glu
ENST00000226284.6:c.500C>A ENSP00000226284.5:p.Ala167Glu
NM_004967.3:c.500C>A NP_004958.2:p.Ala167Glu
NM_004967.4:c.500C>A MANE Select NP_004958.2:p.Ala167Glu
Search 100 bp 5'
Search 100 bp 3'