Canonical Allele Identifier: CA523565996
Gene: PGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1317835179
gnomAD v2: 1-64089470-C-A
gnomAD v3: 1-63623799-C-A
gnomAD v4: 1-63623799-C-A
MyVariant Identifiers: chr1:g.64089470C>A (hg19) chr1:g.63623799C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623799C>A , CM000663.2:g.63623799C>A GRCh38
NC_000001.10:g.64089470C>A , CM000663.1:g.64089470C>A GRCh37
NC_000001.9:g.63862058C>A NCBI36
NG_016966.1:g.35524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5626C>A MANE Select ENSP00000360125.3:n.247-5626C>A
ENST00000650546.1:c.247-5626C>A ENSP00000497812.1:n.247-5626C>A
ENST00000371083.4:c.300+39C>A ENSP00000360124.4:n.300+39C>A
ENST00000371084.7:c.247-5626C>A ENSP00000360125.3:n.247-5626C>A
ENST00000540265.5:c.-345-5626C>A ENSP00000443449.1:n.-345-5626C>A
NM_001172818.1:c.300+39C>A NP_001166289.1:n.300+39C>A
NM_001172819.1:c.-345-5626C>A NP_001166290.1:n.-345-5626C>A
NM_002633.2:c.247-5626C>A NP_002624.2:n.247-5626C>A
NM_002633.3:c.247-5626C>A MANE Select NP_002624.2:n.247-5626C>A
NM_001172819.2:c.-345-5626C>A NP_001166290.1:n.-345-5626C>A
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