Canonical Allele Identifier: CA352828482

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722488T>C , CM000665.2:g.49722488T>C	GRCh38
NC_000003.11:g.49759921T>C , CM000665.1:g.49759921T>C	GRCh37
NC_000003.10:g.49734925T>C	NCBI36
NG_011603.1:g.37932T>C
NG_033731.1:g.6487A>G
NG_033731.2:g.6487A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.584A>G MANE Select	NP_068806.2:p.Lys195Arg
ENST00000308388.7:c.584A>G MANE Select	ENSP00000311130.6:p.Lys195Arg
NM_013334.3:c.584A>G	NP_037466.2:p.Lys195Arg
NM_013334.4:c.584A>G	NP_037466.3:p.Lys195Arg
NM_021971.2:c.584A>G	NP_068806.1:p.Lys195Arg
ENST00000308375.10:c.584A>G	ENSP00000309092.6:p.Lys195Arg
ENST00000308388.6:c.584A>G	ENSP00000311130.6:p.Lys195Arg
ENST00000480687.5:c.584A>G	ENSP00000418565.1:p.Lys195Arg
ENST00000481959.2:n.1157A>G
ENST00000495627.2:c.692A>G	ENSP00000503768.1:p.Lys231Arg
ENST00000677393.1:c.561+108A>G	ENSP00000503880.1:n.561+108A>G
ENST00000678010.1:c.403-341A>G	ENSP00000503176.1:n.403-341A>G
ENST00000678208.1:n.1018A>G
ENST00000678853.1:c.403-130A>G	ENSP00000504692.1:n.403-130A>G