Canonical Allele Identifier: CA889475

Gene: PGM1

Linked Data

• dbSNP Id: rs765310432
• ExAC: 1:64089427 A / G
• gnomAD v2: 1-64089427-A-G
• gnomAD v3: 1-63623756-A-G
• gnomAD v4: 1-63623756-A-G
• MyVariant Identifiers: chr1:g.64089427A>G (hg19) ; chr1:g.63623756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623756A>G , CM000663.2:g.63623756A>G	GRCh38
NC_000001.10:g.64089427A>G , CM000663.1:g.64089427A>G	GRCh37
NC_000001.9:g.63862015A>G	NCBI36
NG_016966.1:g.35481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5669A>G MANE Select	ENSP00000360125.3:n.247-5669A>G
ENST00000650546.1:c.247-5669A>G	ENSP00000497812.1:n.247-5669A>G
ENST00000371083.4:c.296A>G	ENSP00000360124.4:p.Asn99Ser
ENST00000371084.7:c.247-5669A>G	ENSP00000360125.3:n.247-5669A>G
ENST00000540265.5:c.-345-5669A>G	ENSP00000443449.1:n.-345-5669A>G
NM_001172818.1:c.296A>G	NP_001166289.1:p.Asn99Ser
NM_001172819.1:c.-345-5669A>G	NP_001166290.1:n.-345-5669A>G
NM_002633.2:c.247-5669A>G	NP_002624.2:n.247-5669A>G
NM_002633.3:c.247-5669A>G MANE Select	NP_002624.2:n.247-5669A>G
NM_001172819.2:c.-345-5669A>G	NP_001166290.1:n.-345-5669A>G