Canonical Allele Identifier: CA2646031100

Gene: PGM1

Linked Data

• gnomAD v4: 1-63623790-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623790C>A , CM000663.2:g.63623790C>A	GRCh38
NC_000001.10:g.64089461C>A , CM000663.1:g.64089461C>A	GRCh37
NC_000001.9:g.63862049C>A	NCBI36
NG_016966.1:g.35515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5635C>A MANE Select	ENSP00000360125.3:n.247-5635C>A
ENST00000650546.1:c.247-5635C>A	ENSP00000497812.1:n.247-5635C>A
ENST00000371083.4:c.300+30C>A	ENSP00000360124.4:n.300+30C>A
ENST00000371084.7:c.247-5635C>A	ENSP00000360125.3:n.247-5635C>A
ENST00000540265.5:c.-345-5635C>A	ENSP00000443449.1:n.-345-5635C>A
NM_001172818.1:c.300+30C>A	NP_001166289.1:n.300+30C>A
NM_001172819.1:c.-345-5635C>A	NP_001166290.1:n.-345-5635C>A
NM_002633.2:c.247-5635C>A	NP_002624.2:n.247-5635C>A
NM_002633.3:c.247-5635C>A MANE Select	NP_002624.2:n.247-5635C>A
NM_001172819.2:c.-345-5635C>A	NP_001166290.1:n.-345-5635C>A