Canonical Allele Identifier: CA2405359
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49721787C>T
GRCh37 chr3:g.49759220C>T
Revel Score:
ENST00000480687 0.161
ENST00000308375 0.161
ENST00000308388 (MANE Select) 0.161
gnomAD v2:
3:49759220 C / T
gnomAD v3:
3:49721787 C / T
gnomAD v4:
chr3-49721787-C-T
Joint Max Group AF 0.00450168 (AMR)
Genomes Max Group AF 0.00178347 (EAS)
Exomes Max Group AF 0.00555456 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49721787C>T , CM000665.2:g.49721787C>T GRCh38
NC_000003.11:g.49759220C>T , CM000665.1:g.49759220C>T GRCh37
NC_000003.10:g.49734224C>T NCBI36
NG_011603.1:g.37231C>T
NG_033731.1:g.7188G>A
NG_033731.2:g.7188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.1048G>A MANE Select ENSP00000311130.6:p.Gly350Ser
ENST00000481959.2:n.1621G>A
ENST00000495627.2:c.1156G>A ENSP00000503768.1:p.Gly386Ser
ENST00000677393.1:c.*65G>A ENSP00000503880.1:n.*65G>A
ENST00000678010.1:c.682G>A ENSP00000503176.1:p.Gly228Ser
ENST00000678208.1:n.1482G>A
ENST00000678853.1:c.*339G>A ENSP00000504692.1:n.*339G>A
ENST00000308375.10:c.1129G>A ENSP00000309092.6:p.Gly377Ser
ENST00000308388.6:c.1048G>A ENSP00000311130.6:p.Gly350Ser
ENST00000480687.5:c.1048G>A ENSP00000418565.1:p.Gly350Ser
NM_013334.3:c.1129G>A NP_037466.2:p.Gly377Ser
NM_021971.2:c.1048G>A NP_068806.1:p.Gly350Ser
NM_021971.4:c.1048G>A MANE Select NP_068806.2:p.Gly350Ser
NM_013334.4:c.1129G>A NP_037466.3:p.Gly377Ser
Search 100 bp 5'
Search 100 bp 3'