Canonical Allele Identifier: CA23820508
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs969979081
gnomAD v2: 1-64059025-A-G
gnomAD v3: 1-63593354-A-G
gnomAD v4: 1-63593354-A-G
MyVariant Identifiers: chr1:g.64059025A>G (hg19) chr1:g.63593354A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593354A>G , CM000663.2:g.63593354A>G GRCh38
NC_000001.10:g.64059025A>G , CM000663.1:g.64059025A>G GRCh37
NC_000001.9:g.63831613A>G NCBI36
NG_016966.1:g.5079A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-135A>G (PGM1) ENSP00000360125.3:n.-135A>G
ENST00000478138.1:n.197+171T>C (ITGB3BP)
NM_002633.2:c.-135A>G (PGM1) NP_002624.2:n.-135A>G
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