Canonical Allele Identifier: CA1002490877
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs549505712
gnomAD v3: 1-63593395-G-T
gnomAD v4: 1-63593395-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593395G>T , CM000663.2:g.63593395G>T GRCh38
NC_000001.10:g.64059066G>T , CM000663.1:g.64059066G>T GRCh37
NC_000001.9:g.63831654G>T NCBI36
NG_016966.1:g.5120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-94G>T (PGM1) ENSP00000360125.3:n.-94G>T
ENST00000478138.1:n.197+130C>A (ITGB3BP)
NM_002633.2:c.-94G>T (PGM1) NP_002624.2:n.-94G>T
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