Canonical Allele Identifier: CA2671363044
Gene: IBSP HGNC NCBI

Linked Data

gnomAD v4: 4-87811344-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811344T>C , CM000666.2:g.87811344T>C GRCh38
NC_000004.11:g.88732496T>C , CM000666.1:g.88732496T>C GRCh37
NC_000004.10:g.88951520T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.406-18T>C MANE Select ENSP00000226284.5:n.406-18T>C
ENST00000226284.6:c.406-18T>C ENSP00000226284.5:n.406-18T>C
NM_004967.3:c.406-18T>C NP_004958.2:n.406-18T>C
NM_004967.4:c.406-18T>C MANE Select NP_004958.2:n.406-18T>C
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