Canonical Allele Identifier: CA440295717
Gene: IBSP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88732615G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811463G>C , CM000666.2:g.87811463G>C GRCh38
NC_000004.11:g.88732615G>C , CM000666.1:g.88732615G>C GRCh37
NC_000004.10:g.88951639G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.507G>C MANE Select ENSP00000226284.5:p.Val169=
ENST00000226284.6:c.507G>C ENSP00000226284.5:p.Val169=
NM_004967.3:c.507G>C NP_004958.2:p.Val169=
NM_004967.4:c.507G>C MANE Select NP_004958.2:p.Val169=