Canonical Allele Identifier: CA2574393181
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593412G>A , CM000663.2:g.63593412G>A GRCh38
NC_000001.10:g.64059083G>A , CM000663.1:g.64059083G>A GRCh37
NC_000001.9:g.63831671G>A NCBI36
NG_016966.1:g.5137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-77G>A (PGM1) MANE Select ENSP00000360125.3:n.-77G>A
ENST00000650546.1:c.-77G>A (PGM1) ENSP00000497812.1:n.-77G>A
ENST00000371084.7:c.-77G>A (PGM1) ENSP00000360125.3:n.-77G>A
ENST00000478138.1:n.197+113C>T (ITGB3BP)
NM_002633.2:c.-77G>A (PGM1) NP_002624.2:n.-77G>A
NM_002633.3:c.-77G>A (PGM1) MANE Select NP_002624.2:n.-77G>A
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