Canonical Allele Identifier: CA2405425

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722075C>T , CM000665.2:g.49722075C>T	GRCh38
NC_000003.11:g.49759508C>T , CM000665.1:g.49759508C>T	GRCh37
NC_000003.10:g.49734512C>T	NCBI36
NG_011603.1:g.37519C>T
NG_033731.1:g.6900G>A
NG_033731.2:g.6900G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.841G>A MANE Select	NP_068806.2:p.Glu281Lys
ENST00000308388.7:c.841G>A MANE Select	ENSP00000311130.6:p.Glu281Lys
NM_013334.3:c.841G>A	NP_037466.2:p.Glu281Lys
NM_013334.4:c.841G>A	NP_037466.3:p.Glu281Lys
NM_021971.2:c.841G>A	NP_068806.1:p.Glu281Lys
ENST00000308375.10:c.841G>A	ENSP00000309092.6:p.Glu281Lys
ENST00000308388.6:c.841G>A	ENSP00000311130.6:p.Glu281Lys
ENST00000480687.5:c.841G>A	ENSP00000418565.1:p.Glu281Lys
ENST00000481959.2:n.1414G>A
ENST00000495627.2:c.949G>A	ENSP00000503768.1:p.Glu317Lys
ENST00000677393.1:c.634G>A	ENSP00000503880.1:p.Glu212Lys
ENST00000678010.1:c.475G>A	ENSP00000503176.1:p.Glu159Lys
ENST00000678208.1:n.1275G>A
ENST00000678853.1:c.*132G>A	ENSP00000504692.1:n.*132G>A