Canonical Allele Identifier: CA352827878

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722149T>C , CM000665.2:g.49722149T>C	GRCh38
NC_000003.11:g.49759582T>C , CM000665.1:g.49759582T>C	GRCh37
NC_000003.10:g.49734586T>C	NCBI36
NG_011603.1:g.37593T>C
NG_033731.1:g.6826A>G
NG_033731.2:g.6826A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.769-2A>G MANE Select	NP_068806.2:n.769-2A>G
ENST00000308388.7:c.769-2A>G MANE Select	ENSP00000311130.6:n.769-2A>G
NM_013334.3:c.769-2A>G	NP_037466.2:n.769-2A>G
NM_013334.4:c.769-2A>G	NP_037466.3:n.769-2A>G
NM_021971.2:c.769-2A>G	NP_068806.1:n.769-2A>G
ENST00000308375.10:c.769-2A>G	ENSP00000309092.6:n.769-2A>G
ENST00000308388.6:c.769-2A>G	ENSP00000311130.6:n.769-2A>G
ENST00000480687.5:c.769-2A>G	ENSP00000418565.1:n.769-2A>G
ENST00000481959.2:n.1342-2A>G
ENST00000495627.2:c.877-2A>G	ENSP00000503768.1:n.877-2A>G
ENST00000677393.1:c.562-2A>G	ENSP00000503880.1:n.562-2A>G
ENST00000678010.1:c.403-2A>G	ENSP00000503176.1:n.403-2A>G
ENST00000678208.1:n.1203-2A>G
ENST00000678853.1:c.*60-2A>G	ENSP00000504692.1:n.*60-2A>G