Canonical Allele Identifier: CA889623
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63634887G>A
GRCh37 chr1:g.64100558G>A
gnomAD v2:
1:64100558 G / A
gnomAD v3:
1:63634887 G / A
gnomAD v4:
chr1-63634887-G-A
Joint Max Group AF 0.00033397 (AMR)
Genomes Max Group AF 0.00008237 (NFE)
Exomes Max Group AF 0.00041199 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63634887G>A , CM000663.2:g.63634887G>A GRCh38
NC_000001.10:g.64100558G>A , CM000663.1:g.64100558G>A GRCh37
NC_000001.9:g.63873146G>A NCBI36
NG_016966.1:g.46612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.741G>A MANE Select ENSP00000360125.3:p.Ser247=
ENST00000650546.1:c.741G>A ENSP00000497812.1:p.Ser247=
ENST00000371083.4:c.795G>A ENSP00000360124.4:p.Ser265=
ENST00000371084.7:c.741G>A ENSP00000360125.3:p.Ser247=
ENST00000540265.5:c.150G>A ENSP00000443449.1:p.Ser50=
NM_001172818.1:c.795G>A NP_001166289.1:p.Ser265=
NM_001172819.1:c.150G>A NP_001166290.1:p.Ser50=
NM_002633.2:c.741G>A NP_002624.2:p.Ser247=
NM_002633.3:c.741G>A MANE Select NP_002624.2:p.Ser247=
NM_001172819.2:c.150G>A NP_001166290.1:p.Ser50=
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