Canonical Allele Identifier: CA2405464
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49722271C>T
GRCh37 chr3:g.49759704C>T
Revel Score:
ENST00000480687 0.077
ENST00000308375 0.077
ENST00000308388 (MANE Select) 0.077
gnomAD v2:
3:49759704 C / T
gnomAD v3:
3:49722271 C / T
gnomAD v4:
chr3-49722271-C-T
Joint Max Group AF 0.00002863 (SAS)
Exomes Max Group AF 0.00002995 (SAS)
ClinVar RCV:
RCV000251834
RCV001226319
ClinVar Variation:
260287
dbSNP:
749730219
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49722271C>T , CM000665.2:g.49722271C>T GRCh38
NC_000003.11:g.49759704C>T , CM000665.1:g.49759704C>T GRCh37
NC_000003.10:g.49734708C>T NCBI36
NG_011603.1:g.37715C>T
NG_033731.1:g.6704G>A
NG_033731.2:g.6704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.728G>A MANE Select ENSP00000311130.6:p.Arg243Gln
ENST00000481959.2:n.1301G>A
ENST00000495627.2:c.836G>A ENSP00000503768.1:p.Arg279Gln
ENST00000677393.1:c.562-124G>A ENSP00000503880.1:n.562-124G>A
ENST00000678010.1:c.403-124G>A ENSP00000503176.1:n.403-124G>A
ENST00000678208.1:n.1162G>A
ENST00000678853.1:c.*19G>A ENSP00000504692.1:n.*19G>A
ENST00000308375.10:c.728G>A ENSP00000309092.6:p.Arg243Gln
ENST00000308388.6:c.728G>A ENSP00000311130.6:p.Arg243Gln
ENST00000480687.5:c.728G>A ENSP00000418565.1:p.Arg243Gln
NM_013334.3:c.728G>A NP_037466.2:p.Arg243Gln
NM_021971.2:c.728G>A NP_068806.1:p.Arg243Gln
NM_021971.4:c.728G>A MANE Select NP_068806.2:p.Arg243Gln
NM_013334.4:c.728G>A NP_037466.3:p.Arg243Gln
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