Canonical Allele Identifier: CA352829649

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723034C>A , CM000665.2:g.49723034C>A	GRCh38
NC_000003.11:g.49760467C>A , CM000665.1:g.49760467C>A	GRCh37
NC_000003.10:g.49735471C>A	NCBI36
NG_011603.1:g.38478C>A
NG_033731.1:g.5941G>T
NG_033731.2:g.5941G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.340G>T MANE Select	NP_068806.2:p.Asp114Tyr
ENST00000308388.7:c.340G>T MANE Select	ENSP00000311130.6:p.Asp114Tyr
NM_013334.3:c.340G>T	NP_037466.2:p.Asp114Tyr
NM_013334.4:c.340G>T	NP_037466.3:p.Asp114Tyr
NM_021971.2:c.340G>T	NP_068806.1:p.Asp114Tyr
ENST00000308375.10:c.340G>T	ENSP00000309092.6:p.Asp114Tyr
ENST00000308388.6:c.340G>T	ENSP00000311130.6:p.Asp114Tyr
ENST00000480687.5:c.340G>T	ENSP00000418565.1:p.Asp114Tyr
ENST00000481959.1:n.642G>T
ENST00000481959.2:n.696G>T
ENST00000495627.1:n.669G>T
ENST00000495627.2:c.340G>T	ENSP00000503768.1:p.Asp114Tyr
ENST00000677393.1:c.340G>T	ENSP00000503880.1:p.Asp114Tyr
ENST00000678010.1:c.340G>T	ENSP00000503176.1:p.Asp114Tyr
ENST00000678208.1:n.557G>T
ENST00000678853.1:c.340G>T	ENSP00000504692.1:p.Asp114Tyr