Canonical Allele Identifier: CA1171568788
Gene: PGM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623754C= , CM000663.2:g.63623754C= GRCh38
NC_000001.10:g.64089425C= , CM000663.1:g.64089425C= GRCh37
NC_000001.9:g.63862013C= NCBI36
NG_016966.1:g.35479C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5671C= MANE Select ENSP00000360125.3:n.247-5671C=
ENST00000650546.1:c.247-5671C= ENSP00000497812.1:n.247-5671C=
ENST00000371083.4:c.294C= ENSP00000360124.4:p.Ala98=
ENST00000371084.7:c.247-5671C= ENSP00000360125.3:n.247-5671C=
ENST00000540265.5:c.-345-5671C= ENSP00000443449.1:n.-345-5671C=
NM_001172818.1:c.294C= NP_001166289.1:p.Ala98=
NM_001172819.1:c.-345-5671C= NP_001166290.1:n.-345-5671C=
NM_002633.2:c.247-5671C= NP_002624.2:n.247-5671C=
NM_002633.3:c.247-5671C= MANE Select NP_002624.2:n.247-5671C=
NM_001172819.2:c.-345-5671C= NP_001166290.1:n.-345-5671C=
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