Canonical Allele Identifier: CA144570
Gene: GMPPB HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49721847C>T
GRCh37 chr3:g.49759280C>T
Revel Score:
ENST00000480687 0.601
ENST00000308375 0.601
ENST00000308388 (MANE Select) 0.601
gnomAD v2:
3:49759280 C / T
gnomAD v3:
3:49721847 C / T
gnomAD v4:
chr3-49721847-C-T
Joint Max Group AF 0.0001121 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00011454 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49721847C>T , CM000665.2:g.49721847C>T GRCh38
NC_000003.11:g.49759280C>T , CM000665.1:g.49759280C>T GRCh37
NC_000003.10:g.49734284C>T NCBI36
NG_011603.1:g.37291C>T
NG_033731.1:g.7128G>A
NG_033731.2:g.7128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308388.7:c.988G>A MANE Select ENSP00000311130.6:p.Val330Ile
ENST00000481959.2:n.1561G>A
ENST00000495627.2:c.1096G>A ENSP00000503768.1:p.Val366Ile
ENST00000677393.1:c.*5G>A ENSP00000503880.1:n.*5G>A
ENST00000678010.1:c.622G>A ENSP00000503176.1:p.Val208Ile
ENST00000678208.1:n.1422G>A
ENST00000678853.1:c.*279G>A ENSP00000504692.1:n.*279G>A
ENST00000308375.10:c.1069G>A ENSP00000309092.6:p.Val357Ile
ENST00000308388.6:c.988G>A ENSP00000311130.6:p.Val330Ile
ENST00000480687.5:c.988G>A ENSP00000418565.1:p.Val330Ile
NM_013334.3:c.1069G>A NP_037466.2:p.Val357Ile
NM_021971.2:c.988G>A NP_068806.1:p.Val330Ile
NM_021971.4:c.988G>A MANE Select NP_068806.2:p.Val330Ile
NM_013334.4:c.1069G>A NP_037466.3:p.Val357Ile
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