Canonical Allele Identifier: CA2646032672
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593367-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593367G>A , CM000663.2:g.63593367G>A GRCh38
NC_000001.10:g.64059038G>A , CM000663.1:g.64059038G>A GRCh37
NC_000001.9:g.63831626G>A NCBI36
NG_016966.1:g.5092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-122G>A (PGM1) ENSP00000360125.3:n.-122G>A
ENST00000478138.1:n.197+158C>T (ITGB3BP)
NM_002633.2:c.-122G>A (PGM1) NP_002624.2:n.-122G>A
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