Canonical Allele Identifier: CA144551
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49721835C>T
GRCh37 chr3:g.49759268C>T
Revel Score:
ENST00000480687 0.474
ENST00000308375 0.474
ENST00000308388 (MANE Select) 0.474
gnomAD v2:
3:49759268 C / T
gnomAD v3:
3:49721835 C / T
gnomAD v4:
chr3-49721835-C-T
Joint Max Group AF 0.00101453 (SAS)
Genomes Max Group AF 0.0004078 (SAS)
Exomes Max Group AF 0.00101745 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49721835C>T , CM000665.2:g.49721835C>T GRCh38
NC_000003.11:g.49759268C>T , CM000665.1:g.49759268C>T GRCh37
NC_000003.10:g.49734272C>T NCBI36
NG_011603.1:g.37279C>T
NG_033731.1:g.7140G>A
NG_033731.2:g.7140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.1000G>A MANE Select ENSP00000311130.6:p.Asp334Asn
ENST00000481959.2:n.1573G>A
ENST00000495627.2:c.1108G>A ENSP00000503768.1:p.Asp370Asn
ENST00000677393.1:c.*17G>A ENSP00000503880.1:n.*17G>A
ENST00000678010.1:c.634G>A ENSP00000503176.1:p.Asp212Asn
ENST00000678208.1:n.1434G>A
ENST00000678853.1:c.*291G>A ENSP00000504692.1:n.*291G>A
ENST00000308375.10:c.1081G>A ENSP00000309092.6:p.Asp361Asn
ENST00000308388.6:c.1000G>A ENSP00000311130.6:p.Asp334Asn
ENST00000480687.5:c.1000G>A ENSP00000418565.1:p.Asp334Asn
NM_013334.3:c.1081G>A NP_037466.2:p.Asp361Asn
NM_021971.2:c.1000G>A NP_068806.1:p.Asp334Asn
NM_021971.4:c.1000G>A MANE Select NP_068806.2:p.Asp334Asn
NM_013334.4:c.1081G>A NP_037466.3:p.Asp361Asn
Search 100 bp 5'
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