Canonical Allele Identifier: CA523752327

Gene: PGM1

Linked Data

• dbSNP Id: rs1233556209
• gnomAD v2: 1-64095285-G-A
• gnomAD v3: 1-63629614-G-A
• gnomAD v4: 1-63629614-G-A
• MyVariant Identifiers: chr1:g.64095285G>A (hg19) ; chr1:g.63629614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629614G>A , CM000663.2:g.63629614G>A	GRCh38
NC_000001.10:g.64095285G>A , CM000663.1:g.64095285G>A	GRCh37
NC_000001.9:g.63867873G>A	NCBI36
NG_016966.1:g.41339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+27G>A MANE Select	ENSP00000360125.3:n.409+27G>A
ENST00000650546.1:c.409+27G>A	ENSP00000497812.1:n.409+27G>A
ENST00000371083.4:c.463+27G>A	ENSP00000360124.4:n.463+27G>A
ENST00000371084.7:c.409+27G>A	ENSP00000360125.3:n.409+27G>A
ENST00000540265.5:c.-183+27G>A	ENSP00000443449.1:n.-183+27G>A
NM_001172818.1:c.463+27G>A	NP_001166289.1:n.463+27G>A
NM_001172819.1:c.-183+27G>A	NP_001166290.1:n.-183+27G>A
NM_002633.2:c.409+27G>A	NP_002624.2:n.409+27G>A
NM_002633.3:c.409+27G>A MANE Select	NP_002624.2:n.409+27G>A
NM_001172819.2:c.-183+27G>A	NP_001166290.1:n.-183+27G>A