Canonical Allele Identifier: CA352828694

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722667G>A , CM000665.2:g.49722667G>A	GRCh38
NC_000003.11:g.49760100G>A , CM000665.1:g.49760100G>A	GRCh37
NC_000003.10:g.49735104G>A	NCBI36
NG_011603.1:g.38111G>A
NG_033731.1:g.6308C>T
NG_033731.2:g.6308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.490C>T MANE Select	NP_068806.2:p.Gln164Ter
ENST00000308388.7:c.490C>T MANE Select	ENSP00000311130.6:p.Gln164Ter
NM_013334.3:c.490C>T	NP_037466.2:p.Gln164Ter
NM_013334.4:c.490C>T	NP_037466.3:p.Gln164Ter
NM_021971.2:c.490C>T	NP_068806.1:p.Gln164Ter
ENST00000308375.10:c.490C>T	ENSP00000309092.6:p.Gln164Ter
ENST00000308388.6:c.490C>T	ENSP00000311130.6:p.Gln164Ter
ENST00000480687.5:c.490C>T	ENSP00000418565.1:p.Gln164Ter
ENST00000481959.2:n.1063C>T
ENST00000495627.2:c.598C>T	ENSP00000503768.1:p.Gln200Ter
ENST00000677393.1:c.490C>T	ENSP00000503880.1:p.Gln164Ter
ENST00000678010.1:c.402+305C>T	ENSP00000503176.1:n.402+305C>T
ENST00000678208.1:n.924C>T
ENST00000678853.1:c.402+305C>T	ENSP00000504692.1:n.402+305C>T