Canonical Allele Identifier: CA2405424
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49722057G>A
GRCh37 chr3:g.49759490G>A
Revel Score:
ENST00000480687 0.547
ENST00000308375 0.547
ENST00000308388 (MANE Select) 0.547
gnomAD v2:
3:49759490 G / A
gnomAD v3:
3:49722057 G / A
gnomAD v4:
chr3-49722057-G-A
Joint Max Group AF 0.00012479 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00012534 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49722057G>A , CM000665.2:g.49722057G>A GRCh38
NC_000003.11:g.49759490G>A , CM000665.1:g.49759490G>A GRCh37
NC_000003.10:g.49734494G>A NCBI36
NG_011603.1:g.37501G>A
NG_033731.1:g.6918C>T
NG_033731.2:g.6918C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.859C>T MANE Select ENSP00000311130.6:p.Arg287Trp
ENST00000481959.2:n.1432C>T
ENST00000495627.2:c.967C>T ENSP00000503768.1:p.Arg323Trp
ENST00000677393.1:c.652C>T ENSP00000503880.1:p.Arg218Trp
ENST00000678010.1:c.493C>T ENSP00000503176.1:p.Arg165Trp
ENST00000678208.1:n.1293C>T
ENST00000678853.1:c.*150C>T ENSP00000504692.1:n.*150C>T
ENST00000308375.10:c.859C>T ENSP00000309092.6:p.Arg287Trp
ENST00000308388.6:c.859C>T ENSP00000311130.6:p.Arg287Trp
ENST00000480687.5:c.859C>T ENSP00000418565.1:p.Arg287Trp
NM_013334.3:c.859C>T NP_037466.2:p.Arg287Trp
NM_021971.2:c.859C>T NP_068806.1:p.Arg287Trp
NM_021971.4:c.859C>T MANE Select NP_068806.2:p.Arg287Trp
NM_013334.4:c.859C>T NP_037466.3:p.Arg287Trp
Search 100 bp 5'
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