Canonical Allele Identifier: CA737795836
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs1169693867
gnomAD v4: 1-63593348-A-G
MyVariant Identifiers: chr1:g.64059019A>G (hg19) chr1:g.63593348A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593348A>G , CM000663.2:g.63593348A>G GRCh38
NC_000001.10:g.64059019A>G , CM000663.1:g.64059019A>G GRCh37
NC_000001.9:g.63831607A>G NCBI36
NG_016966.1:g.5073A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-141A>G (PGM1) ENSP00000360125.3:n.-141A>G
ENST00000478138.1:n.197+177T>C (ITGB3BP)
NM_002633.2:c.-141A>G (PGM1) NP_002624.2:n.-141A>G
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