Canonical Allele Identifier: CA352831679

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723659T>C , CM000665.2:g.49723659T>C	GRCh38
NC_000003.11:g.49761092T>C , CM000665.1:g.49761092T>C	GRCh37
NC_000003.10:g.49736096T>C	NCBI36
NG_033731.1:g.5316A>G
NG_033731.2:g.5316A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.68A>G MANE Select	NP_068806.2:p.Lys23Arg
ENST00000308388.7:c.68A>G MANE Select	ENSP00000311130.6:p.Lys23Arg
NM_013334.3:c.68A>G	NP_037466.2:p.Lys23Arg
NM_013334.4:c.68A>G	NP_037466.3:p.Lys23Arg
NM_021971.2:c.68A>G	NP_068806.1:p.Lys23Arg
ENST00000308375.10:c.68A>G	ENSP00000309092.6:p.Lys23Arg
ENST00000308388.6:c.68A>G	ENSP00000311130.6:p.Lys23Arg
ENST00000480687.5:c.68A>G	ENSP00000418565.1:p.Lys23Arg
ENST00000481959.1:n.285A>G
ENST00000481959.2:n.285A>G
ENST00000495627.1:n.258A>G
ENST00000495627.2:c.68A>G	ENSP00000503768.1:p.Lys23Arg
ENST00000677393.1:c.68A>G	ENSP00000503880.1:p.Lys23Arg
ENST00000678010.1:c.68A>G	ENSP00000503176.1:p.Lys23Arg
ENST00000678208.1:n.285A>G
ENST00000678853.1:c.68A>G	ENSP00000504692.1:p.Lys23Arg