Canonical Allele Identifier: CA352831122

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723474T>G , CM000665.2:g.49723474T>G	GRCh38
NC_000003.11:g.49760907T>G , CM000665.1:g.49760907T>G	GRCh37
NC_000003.10:g.49735911T>G	NCBI36
NG_011603.1:g.38918T>G
NG_033731.1:g.5501A>C
NG_033731.2:g.5501A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.130-2A>C MANE Select	NP_068806.2:n.130-2A>C
ENST00000308388.7:c.130-2A>C MANE Select	ENSP00000311130.6:n.130-2A>C
NM_013334.3:c.130-2A>C	NP_037466.2:n.130-2A>C
NM_013334.4:c.130-2A>C	NP_037466.3:n.130-2A>C
NM_021971.2:c.130-2A>C	NP_068806.1:n.130-2A>C
ENST00000308375.10:c.130-2A>C	ENSP00000309092.6:n.130-2A>C
ENST00000308388.6:c.130-2A>C	ENSP00000311130.6:n.130-2A>C
ENST00000480687.5:c.130-2A>C	ENSP00000418565.1:n.130-2A>C
ENST00000481959.1:n.347-6A>C
ENST00000481959.2:n.347-2A>C
ENST00000495627.1:n.320-2A>C
ENST00000495627.2:c.130-2A>C	ENSP00000503768.1:n.130-2A>C
ENST00000677393.1:c.130-2A>C	ENSP00000503880.1:n.130-2A>C
ENST00000678010.1:c.130-2A>C	ENSP00000503176.1:n.130-2A>C
ENST00000678208.1:n.347-2A>C
ENST00000678853.1:c.130-2A>C	ENSP00000504692.1:n.130-2A>C