Canonical Allele Identifier: CA889517
Gene: PGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366950
ClinVar RCV Id: RCV001962188
dbSNP Id: rs367689770
ExAC: 1:64095220 A / G
gnomAD v2: 1-64095220-A-G
gnomAD v3: 1-63629549-A-G
gnomAD v4: 1-63629549-A-G
MyVariant Identifiers: chr1:g.64095220A>G (hg19) chr1:g.63629549A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629549A>G , CM000663.2:g.63629549A>G GRCh38
NC_000001.10:g.64095220A>G , CM000663.1:g.64095220A>G GRCh37
NC_000001.9:g.63867808A>G NCBI36
NG_016966.1:g.41274A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.371A>G MANE Select ENSP00000360125.3:p.Asn124Ser
ENST00000650546.1:c.371A>G ENSP00000497812.1:p.Asn124Ser
ENST00000371083.4:c.425A>G ENSP00000360124.4:p.Asn142Ser
ENST00000371084.7:c.371A>G ENSP00000360125.3:p.Asn124Ser
ENST00000540265.5:c.-221A>G ENSP00000443449.1:n.-221A>G
NM_001172818.1:c.425A>G NP_001166289.1:p.Asn142Ser
NM_001172819.1:c.-221A>G NP_001166290.1:n.-221A>G
NM_002633.2:c.371A>G NP_002624.2:p.Asn124Ser
NM_002633.3:c.371A>G MANE Select NP_002624.2:p.Asn124Ser
NM_001172819.2:c.-221A>G NP_001166290.1:n.-221A>G
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