Canonical Allele Identifier: CA352831203

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723597C>A , CM000665.2:g.49723597C>A	GRCh38
NC_000003.11:g.49761030C>A , CM000665.1:g.49761030C>A	GRCh37
NC_000003.10:g.49736034C>A	NCBI36
NG_033731.1:g.5378G>T
NG_033731.2:g.5378G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.129+1G>T MANE Select	NP_068806.2:n.129+1G>T
ENST00000308388.7:c.129+1G>T MANE Select	ENSP00000311130.6:n.129+1G>T
NM_013334.3:c.129+1G>T	NP_037466.2:n.129+1G>T
NM_013334.4:c.129+1G>T	NP_037466.3:n.129+1G>T
NM_021971.2:c.129+1G>T	NP_068806.1:n.129+1G>T
ENST00000308375.10:c.129+1G>T	ENSP00000309092.6:n.129+1G>T
ENST00000308388.6:c.129+1G>T	ENSP00000311130.6:n.129+1G>T
ENST00000480687.5:c.129+1G>T	ENSP00000418565.1:n.129+1G>T
ENST00000481959.1:n.346+1G>T
ENST00000481959.2:n.346+1G>T
ENST00000495627.1:n.319+1G>T
ENST00000495627.2:c.129+1G>T	ENSP00000503768.1:n.129+1G>T
ENST00000677393.1:c.129+1G>T	ENSP00000503880.1:n.129+1G>T
ENST00000678010.1:c.129+1G>T	ENSP00000503176.1:n.129+1G>T
ENST00000678208.1:n.346+1G>T
ENST00000678853.1:c.129+1G>T	ENSP00000504692.1:n.129+1G>T