Canonical Allele Identifier: CA737795892
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs551310804
gnomAD v3: 1-63593440-C-A
gnomAD v4: 1-63593440-C-A
MyVariant Identifiers: chr1:g.64059111C>A (hg19) chr1:g.63593440C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593440C>A , CM000663.2:g.63593440C>A GRCh38
NC_000001.10:g.64059111C>A , CM000663.1:g.64059111C>A GRCh37
NC_000001.9:g.63831699C>A NCBI36
NG_016966.1:g.5165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-49C>A (PGM1) MANE Select ENSP00000360125.3:n.-49C>A
ENST00000650546.1:c.-49C>A (PGM1) ENSP00000497812.1:n.-49C>A
ENST00000371084.7:c.-49C>A (PGM1) ENSP00000360125.3:n.-49C>A
ENST00000478138.1:n.197+85G>T (ITGB3BP)
NM_002633.2:c.-49C>A (PGM1) NP_002624.2:n.-49C>A
NM_002633.3:c.-49C>A (PGM1) MANE Select NP_002624.2:n.-49C>A
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