Canonical Allele Identifier: CA1171556237
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs1647916373
gnomAD v4: 1-63593375-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593375G>C , CM000663.2:g.63593375G>C GRCh38
NC_000001.10:g.64059046G>C , CM000663.1:g.64059046G>C GRCh37
NC_000001.9:g.63831634G>C NCBI36
NG_016966.1:g.5100G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-114G>C (PGM1) ENSP00000360125.3:n.-114G>C
ENST00000478138.1:n.197+150C>G (ITGB3BP)
NM_002633.2:c.-114G>C (PGM1) NP_002624.2:n.-114G>C
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