Canonical Allele Identifier: CA2405355

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721765C>T , CM000665.2:g.49721765C>T	GRCh38
NC_000003.11:g.49759198C>T , CM000665.1:g.49759198C>T	GRCh37
NC_000003.10:g.49734202C>T	NCBI36
NG_011603.1:g.37209C>T
NG_033731.1:g.7210G>A
NG_033731.2:g.7210G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.1070G>A MANE Select	NP_068806.2:p.Arg357His
ENST00000308388.7:c.1070G>A MANE Select	ENSP00000311130.6:p.Arg357His
NM_013334.3:c.1151G>A	NP_037466.2:p.Arg384His
NM_013334.4:c.1151G>A	NP_037466.3:p.Arg384His
NM_021971.2:c.1070G>A	NP_068806.1:p.Arg357His
ENST00000308375.10:c.1151G>A	ENSP00000309092.6:p.Arg384His
ENST00000308388.6:c.1070G>A	ENSP00000311130.6:p.Arg357His
ENST00000480687.5:c.1070G>A	ENSP00000418565.1:p.Arg357His
ENST00000481959.2:n.1643G>A
ENST00000495627.2:c.1178G>A	ENSP00000503768.1:p.Arg393His
ENST00000677393.1:c.*87G>A	ENSP00000503880.1:n.*87G>A
ENST00000678010.1:c.704G>A	ENSP00000503176.1:p.Arg235His
ENST00000678208.1:n.1504G>A
ENST00000678853.1:c.*361G>A	ENSP00000504692.1:n.*361G>A