Canonical Allele Identifier: CA352828136

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722285C>A , CM000665.2:g.49722285C>A	GRCh38
NC_000003.11:g.49759718C>A , CM000665.1:g.49759718C>A	GRCh37
NC_000003.10:g.49734722C>A	NCBI36
NG_011603.1:g.37729C>A
NG_033731.1:g.6690G>T
NG_033731.2:g.6690G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.714G>T MANE Select	NP_068806.2:p.Gln238His
ENST00000308388.7:c.714G>T MANE Select	ENSP00000311130.6:p.Gln238His
NM_013334.3:c.714G>T	NP_037466.2:p.Gln238His
NM_013334.4:c.714G>T	NP_037466.3:p.Gln238His
NM_021971.2:c.714G>T	NP_068806.1:p.Gln238His
ENST00000308375.10:c.714G>T	ENSP00000309092.6:p.Gln238His
ENST00000308388.6:c.714G>T	ENSP00000311130.6:p.Gln238His
ENST00000480687.5:c.714G>T	ENSP00000418565.1:p.Gln238His
ENST00000481959.2:n.1287G>T
ENST00000495627.2:c.822G>T	ENSP00000503768.1:p.Gln274His
ENST00000677393.1:c.562-138G>T	ENSP00000503880.1:n.562-138G>T
ENST00000678010.1:c.403-138G>T	ENSP00000503176.1:n.403-138G>T
ENST00000678208.1:n.1148G>T
ENST00000678853.1:c.*5G>T	ENSP00000504692.1:n.*5G>T