Canonical Allele Identifier: CA74541358

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721958G>T , CM000665.2:g.49721958G>T	GRCh38
NC_000003.11:g.49759391G>T , CM000665.1:g.49759391G>T	GRCh37
NC_000003.10:g.49734395G>T	NCBI36
NG_011603.1:g.37402G>T
NG_033731.1:g.7017C>A
NG_033731.2:g.7017C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.951+7C>A MANE Select	NP_068806.2:n.951+7C>A
ENST00000308388.7:c.951+7C>A MANE Select	ENSP00000311130.6:n.951+7C>A
NM_013334.3:c.958C>A	NP_037466.2:p.Leu320Met
NM_013334.4:c.958C>A	NP_037466.3:p.Leu320Met
NM_021971.2:c.951+7C>A	NP_068806.1:n.951+7C>A
ENST00000308375.10:c.958C>A	ENSP00000309092.6:p.Leu320Met
ENST00000308388.6:c.951+7C>A	ENSP00000311130.6:n.951+7C>A
ENST00000480687.5:c.951+7C>A	ENSP00000418565.1:n.951+7C>A
ENST00000481959.2:n.1524+7C>A
ENST00000495627.2:c.1059+7C>A	ENSP00000503768.1:n.1059+7C>A
ENST00000677393.1:c.736+15C>A	ENSP00000503880.1:n.736+15C>A
ENST00000678010.1:c.585+7C>A	ENSP00000503176.1:n.585+7C>A
ENST00000678208.1:n.1385+7C>A
ENST00000678853.1:c.*242+7C>A	ENSP00000504692.1:n.*242+7C>A