Canonical Allele Identifier: CA352830252

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723292C>G , CM000665.2:g.49723292C>G	GRCh38
NC_000003.11:g.49760725C>G , CM000665.1:g.49760725C>G	GRCh37
NC_000003.10:g.49735729C>G	NCBI36
NG_011603.1:g.38736C>G
NG_033731.1:g.5683G>C
NG_033731.2:g.5683G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.221G>C MANE Select	NP_068806.2:p.Arg74Pro
ENST00000308388.7:c.221G>C MANE Select	ENSP00000311130.6:p.Arg74Pro
NM_013334.3:c.221G>C	NP_037466.2:p.Arg74Pro
NM_013334.4:c.221G>C	NP_037466.3:p.Arg74Pro
NM_021971.2:c.221G>C	NP_068806.1:p.Arg74Pro
ENST00000308375.10:c.221G>C	ENSP00000309092.6:p.Arg74Pro
ENST00000308388.6:c.221G>C	ENSP00000311130.6:p.Arg74Pro
ENST00000480687.5:c.221G>C	ENSP00000418565.1:p.Arg74Pro
ENST00000481959.1:n.523G>C
ENST00000481959.2:n.438G>C
ENST00000495627.1:n.411G>C
ENST00000495627.2:c.221G>C	ENSP00000503768.1:p.Arg74Pro
ENST00000677393.1:c.221G>C	ENSP00000503880.1:p.Arg74Pro
ENST00000678010.1:c.221G>C	ENSP00000503176.1:p.Arg74Pro
ENST00000678208.1:n.438G>C
ENST00000678853.1:c.221G>C	ENSP00000504692.1:p.Arg74Pro