Canonical Allele Identifier: CA23833071

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63630376A>G , CM000663.2:g.63630376A>G	GRCh38
NC_000001.10:g.64096047A>G , CM000663.1:g.64096047A>G	GRCh37
NC_000001.9:g.63868635A>G	NCBI36
NG_016966.1:g.42101A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002633.3:c.556+288A>G MANE Select	NP_002624.2:n.556+288A>G
ENST00000371084.8:c.556+288A>G MANE Select	ENSP00000360125.3:n.556+288A>G
NM_001172818.1:c.610+288A>G	NP_001166289.1:n.610+288A>G
NM_001172819.1:c.-36+288A>G	NP_001166290.1:n.-36+288A>G
NM_001172819.2:c.-36+288A>G	NP_001166290.1:n.-36+288A>G
NM_002633.2:c.556+288A>G	NP_002624.2:n.556+288A>G
ENST00000371083.4:c.610+288A>G	ENSP00000360124.4:n.610+288A>G
ENST00000371084.7:c.556+288A>G	ENSP00000360125.3:n.556+288A>G
ENST00000540265.5:c.-36+288A>G	ENSP00000443449.1:n.-36+288A>G
ENST00000650546.1:c.556+288A>G	ENSP00000497812.1:n.556+288A>G