Canonical Allele Identifier: CA2405407
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49721985G>A
GRCh37 chr3:g.49759418G>A
Revel Score:
ENST00000480687 0.493
ENST00000308375 0.493
ENST00000308388 (MANE Select) 0.493
gnomAD v2:
3:49759418 G / A
gnomAD v3:
3:49721985 G / A
gnomAD v4:
chr3-49721985-G-A
Joint Max Group AF 0.00002124 (SAS)
Genomes Max Group AF 0.0000119 (NFE)
Exomes Max Group AF 0.00002205 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49721985G>A , CM000665.2:g.49721985G>A GRCh38
NC_000003.11:g.49759418G>A , CM000665.1:g.49759418G>A GRCh37
NC_000003.10:g.49734422G>A NCBI36
NG_011603.1:g.37429G>A
NG_033731.1:g.6990C>T
NG_033731.2:g.6990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.931C>T MANE Select ENSP00000311130.6:p.Arg311Cys
ENST00000481959.2:n.1504C>T
ENST00000495627.2:c.1039C>T ENSP00000503768.1:p.Arg347Cys
ENST00000677393.1:c.724C>T ENSP00000503880.1:p.Arg242Cys
ENST00000678010.1:c.565C>T ENSP00000503176.1:p.Arg189Cys
ENST00000678208.1:n.1365C>T
ENST00000678853.1:c.*222C>T ENSP00000504692.1:n.*222C>T
ENST00000308375.10:c.931C>T ENSP00000309092.6:p.Arg311Cys
ENST00000308388.6:c.931C>T ENSP00000311130.6:p.Arg311Cys
ENST00000480687.5:c.931C>T ENSP00000418565.1:p.Arg311Cys
NM_013334.3:c.931C>T NP_037466.2:p.Arg311Cys
NM_021971.2:c.931C>T NP_068806.1:p.Arg311Cys
NM_021971.4:c.931C>T MANE Select NP_068806.2:p.Arg311Cys
NM_013334.4:c.931C>T NP_037466.3:p.Arg311Cys
Search 100 bp 5'
Search 100 bp 3'