Canonical Allele Identifier: CA2574393187
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593432G>T , CM000663.2:g.63593432G>T GRCh38
NC_000001.10:g.64059103G>T , CM000663.1:g.64059103G>T GRCh37
NC_000001.9:g.63831691G>T NCBI36
NG_016966.1:g.5157G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-57G>T (PGM1) MANE Select ENSP00000360125.3:n.-57G>T
ENST00000650546.1:c.-57G>T (PGM1) ENSP00000497812.1:n.-57G>T
ENST00000371084.7:c.-57G>T (PGM1) ENSP00000360125.3:n.-57G>T
ENST00000478138.1:n.197+93C>A (ITGB3BP)
NM_002633.2:c.-57G>T (PGM1) NP_002624.2:n.-57G>T
NM_002633.3:c.-57G>T (PGM1) MANE Select NP_002624.2:n.-57G>T
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