Canonical Allele Identifier: CA74541239

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721809G>A , CM000665.2:g.49721809G>A	GRCh38
NC_000003.11:g.49759242G>A , CM000665.1:g.49759242G>A	GRCh37
NC_000003.10:g.49734246G>A	NCBI36
NG_011603.1:g.37253G>A
NG_033731.1:g.7166C>T
NG_033731.2:g.7166C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.1026C>T MANE Select	NP_068806.2:p.Ser342=
ENST00000308388.7:c.1026C>T MANE Select	ENSP00000311130.6:p.Ser342=
NM_013334.3:c.1107C>T	NP_037466.2:p.Ser369=
NM_013334.4:c.1107C>T	NP_037466.3:p.Ser369=
NM_021971.2:c.1026C>T	NP_068806.1:p.Ser342=
ENST00000308375.10:c.1107C>T	ENSP00000309092.6:p.Ser369=
ENST00000308388.6:c.1026C>T	ENSP00000311130.6:p.Ser342=
ENST00000480687.5:c.1026C>T	ENSP00000418565.1:p.Ser342=
ENST00000481959.2:n.1599C>T
ENST00000495627.2:c.1134C>T	ENSP00000503768.1:p.Ser378=
ENST00000677393.1:c.*43C>T	ENSP00000503880.1:n.*43C>T
ENST00000678010.1:c.660C>T	ENSP00000503176.1:p.Ser220=
ENST00000678208.1:n.1460C>T
ENST00000678853.1:c.*317C>T	ENSP00000504692.1:n.*317C>T