Canonical Allele Identifier: CA10610247
Gene: PGM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.63638810A>G
GRCh37 chr1:g.64104481A>G
gnomAD v2:
1:64104481 A / G
gnomAD v3:
1:63638810 A / G
gnomAD v4:
chr1-63638810-A-G
Joint Max Group AF 0.00001181 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001047 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63638810A>G , CM000663.2:g.63638810A>G GRCh38
NC_000001.10:g.64104481A>G , CM000663.1:g.64104481A>G GRCh37
NC_000001.9:g.63877069A>G NCBI36
NG_016966.1:g.50535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.1144+10A>G MANE Select ENSP00000360125.3:n.1144+10A>G
ENST00000650546.1:c.1144+10A>G ENSP00000497812.1:n.1144+10A>G
ENST00000371083.4:c.1198+10A>G ENSP00000360124.4:n.1198+10A>G
ENST00000371084.7:c.1144+10A>G ENSP00000360125.3:n.1144+10A>G
ENST00000540265.5:c.553+10A>G ENSP00000443449.1:n.553+10A>G
NM_001172818.1:c.1198+10A>G NP_001166289.1:n.1198+10A>G
NM_001172819.1:c.553+10A>G NP_001166290.1:n.553+10A>G
NM_002633.2:c.1144+10A>G NP_002624.2:n.1144+10A>G
NM_002633.3:c.1144+10A>G MANE Select NP_002624.2:n.1144+10A>G
NM_001172819.2:c.553+10A>G NP_001166290.1:n.553+10A>G
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