Canonical Allele Identifier: CA74541297

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721895G>A , CM000665.2:g.49721895G>A	GRCh38
NC_000003.11:g.49759328G>A , CM000665.1:g.49759328G>A	GRCh37
NC_000003.10:g.49734332G>A	NCBI36
NG_011603.1:g.37339G>A
NG_033731.1:g.7080C>T
NG_033731.2:g.7080C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.952-12C>T MANE Select	NP_068806.2:n.952-12C>T
ENST00000308388.7:c.952-12C>T MANE Select	ENSP00000311130.6:n.952-12C>T
NM_013334.3:c.1021C>T	NP_037466.2:p.Pro341Ser
NM_013334.4:c.1021C>T	NP_037466.3:p.Pro341Ser
NM_021971.2:c.952-12C>T	NP_068806.1:n.952-12C>T
ENST00000308375.10:c.1021C>T	ENSP00000309092.6:p.Pro341Ser
ENST00000308388.6:c.952-12C>T	ENSP00000311130.6:n.952-12C>T
ENST00000480687.5:c.952-12C>T	ENSP00000418565.1:n.952-12C>T
ENST00000481959.2:n.1525-12C>T
ENST00000495627.2:c.1060-12C>T	ENSP00000503768.1:n.1060-12C>T
ENST00000677393.1:c.737-12C>T	ENSP00000503880.1:n.737-12C>T
ENST00000678010.1:c.586-12C>T	ENSP00000503176.1:n.586-12C>T
ENST00000678208.1:n.1386-12C>T
ENST00000678853.1:c.*243-12C>T	ENSP00000504692.1:n.*243-12C>T