Canonical Allele Identifier: CA74542195

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722971C>T , CM000665.2:g.49722971C>T	GRCh38
NC_000003.11:g.49760404C>T , CM000665.1:g.49760404C>T	GRCh37
NC_000003.10:g.49735408C>T	NCBI36
NG_011603.1:g.38415C>T
NG_033731.1:g.6004G>A
NG_033731.2:g.6004G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.402+1G>A MANE Select	NP_068806.2:n.402+1G>A
ENST00000308388.7:c.402+1G>A MANE Select	ENSP00000311130.6:n.402+1G>A
NM_013334.3:c.402+1G>A	NP_037466.2:n.402+1G>A
NM_013334.4:c.402+1G>A	NP_037466.3:n.402+1G>A
NM_021971.2:c.402+1G>A	NP_068806.1:n.402+1G>A
ENST00000308375.10:c.402+1G>A	ENSP00000309092.6:n.402+1G>A
ENST00000308388.6:c.402+1G>A	ENSP00000311130.6:n.402+1G>A
ENST00000480687.5:c.402+1G>A	ENSP00000418565.1:n.402+1G>A
ENST00000481959.1:n.705G>A
ENST00000481959.2:n.759G>A
ENST00000495627.2:c.403G>A	ENSP00000503768.1:p.Val135Ile
ENST00000677393.1:c.402+1G>A	ENSP00000503880.1:n.402+1G>A
ENST00000678010.1:c.402+1G>A	ENSP00000503176.1:n.402+1G>A
ENST00000678208.1:n.620G>A
ENST00000678853.1:c.402+1G>A	ENSP00000504692.1:n.402+1G>A