Canonical Allele Identifier: CA418268581
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64059234G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593563G>T , CM000663.2:g.63593563G>T GRCh38
NC_000001.10:g.64059234G>T , CM000663.1:g.64059234G>T GRCh37
NC_000001.9:g.63831822G>T NCBI36
NG_016966.1:g.5288G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.75G>T (PGM1) MANE Select ENSP00000360125.3:p.Arg25=
ENST00000650546.1:c.75G>T (PGM1) ENSP00000497812.1:p.Arg25=
ENST00000371084.7:c.75G>T (PGM1) ENSP00000360125.3:p.Arg25=
ENST00000478138.1:n.159C>A (ITGB3BP)
NM_002633.2:c.75G>T (PGM1) NP_002624.2:p.Arg25=
NM_002633.3:c.75G>T (PGM1) MANE Select NP_002624.2:p.Arg25=
Search 100 bp 5'
Search 100 bp 3'