Canonical Allele Identifier: CA2405379

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721882A>G , CM000665.2:g.49721882A>G	GRCh38
NC_000003.11:g.49759315A>G , CM000665.1:g.49759315A>G	GRCh37
NC_000003.10:g.49734319A>G	NCBI36
NG_011603.1:g.37326A>G
NG_033731.1:g.7093T>C
NG_033731.2:g.7093T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.953T>C MANE Select	NP_068806.2:p.Val318Ala
ENST00000308388.7:c.953T>C MANE Select	ENSP00000311130.6:p.Val318Ala
NM_013334.3:c.1034T>C	NP_037466.2:p.Val345Ala
NM_013334.4:c.1034T>C	NP_037466.3:p.Val345Ala
NM_021971.2:c.953T>C	NP_068806.1:p.Val318Ala
ENST00000308375.10:c.1034T>C	ENSP00000309092.6:p.Val345Ala
ENST00000308388.6:c.953T>C	ENSP00000311130.6:p.Val318Ala
ENST00000480687.5:c.953T>C	ENSP00000418565.1:p.Val318Ala
ENST00000481959.2:n.1526T>C
ENST00000495627.2:c.1061T>C	ENSP00000503768.1:p.Val354Ala
ENST00000677393.1:c.738T>C	ENSP00000503880.1:p.Gly246=
ENST00000678010.1:c.587T>C	ENSP00000503176.1:p.Val196Ala
ENST00000678208.1:n.1387T>C
ENST00000678853.1:c.*244T>C	ENSP00000504692.1:n.*244T>C