Canonical Allele Identifier: CA23832149

Gene: PGM1

Linked Data

• dbSNP Id: rs374111261
• gnomAD v4: 1-63629525-C-G
• MyVariant Identifiers: chr1:g.64095196C>G (hg19) ; chr1:g.63629525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629525C>G , CM000663.2:g.63629525C>G	GRCh38
NC_000001.10:g.64095196C>G , CM000663.1:g.64095196C>G	GRCh37
NC_000001.9:g.63867784C>G	NCBI36
NG_016966.1:g.41250C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.347C>G MANE Select	ENSP00000360125.3:p.Ala116Gly
ENST00000650546.1:c.347C>G	ENSP00000497812.1:p.Ala116Gly
ENST00000371083.4:c.401C>G	ENSP00000360124.4:p.Ala134Gly
ENST00000371084.7:c.347C>G	ENSP00000360125.3:p.Ala116Gly
ENST00000540265.5:c.-245C>G	ENSP00000443449.1:n.-245C>G
NM_001172818.1:c.401C>G	NP_001166289.1:p.Ala134Gly
NM_001172819.1:c.-245C>G	NP_001166290.1:n.-245C>G
NM_002633.2:c.347C>G	NP_002624.2:p.Ala116Gly
NM_002633.3:c.347C>G MANE Select	NP_002624.2:p.Ala116Gly
NM_001172819.2:c.-245C>G	NP_001166290.1:n.-245C>G