Canonical Allele Identifier: CA340638910
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593529A>C , CM000663.2:g.63593529A>C GRCh38
NC_000001.10:g.64059200A>C , CM000663.1:g.64059200A>C GRCh37
NC_000001.9:g.63831788A>C NCBI36
NG_016966.1:g.5254A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.41A>C (PGM1) MANE Select ENSP00000360125.3:p.Asp14Ala
ENST00000650546.1:c.41A>C (PGM1) ENSP00000497812.1:p.Asp14Ala
ENST00000371084.7:c.41A>C (PGM1) ENSP00000360125.3:p.Asp14Ala
ENST00000478138.1:n.193T>G (ITGB3BP)
NM_002633.2:c.41A>C (PGM1) NP_002624.2:p.Asp14Ala
NM_002633.3:c.41A>C (PGM1) MANE Select NP_002624.2:p.Asp14Ala