Canonical Allele Identifier: CA2405494
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49722431C>G
GRCh37 chr3:g.49759864C>G
gnomAD v2:
3:49759864 C / G
gnomAD v3:
3:49722431 C / G
gnomAD v4:
chr3-49722431-C-G
Joint Max Group AF 0.00011837 (SAS)
Genomes Max Group AF 0.00007282 (SAS)
Exomes Max Group AF 0.00010711 (SAS)
ClinVar RCV:
RCV000523645
ClinVar Variation:
451996
dbSNP:
141588721
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49722431C>G , CM000665.2:g.49722431C>G GRCh38
NC_000003.11:g.49759864C>G , CM000665.1:g.49759864C>G GRCh37
NC_000003.10:g.49734868C>G NCBI36
NG_011603.1:g.37875C>G
NG_033731.1:g.6544G>C
NG_033731.2:g.6544G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.640+1G>C MANE Select ENSP00000311130.6:n.640+1G>C
ENST00000481959.2:n.1213+1G>C
ENST00000495627.2:c.748+1G>C ENSP00000503768.1:n.748+1G>C
ENST00000677393.1:c.561+165G>C ENSP00000503880.1:n.561+165G>C
ENST00000678010.1:c.403-284G>C ENSP00000503176.1:n.403-284G>C
ENST00000678208.1:n.1074+1G>C
ENST00000678853.1:c.403-73G>C ENSP00000504692.1:n.403-73G>C
ENST00000308375.10:c.640+1G>C ENSP00000309092.6:n.640+1G>C
ENST00000308388.6:c.640+1G>C ENSP00000311130.6:n.640+1G>C
ENST00000480687.5:c.640+1G>C ENSP00000418565.1:n.640+1G>C
NM_013334.3:c.640+1G>C NP_037466.2:n.640+1G>C
NM_021971.2:c.640+1G>C NP_068806.1:n.640+1G>C
NM_021971.4:c.640+1G>C MANE Select NP_068806.2:n.640+1G>C
NM_013334.4:c.640+1G>C NP_037466.3:n.640+1G>C
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