Canonical Allele Identifier: CA3683373
Gene: PGBD1 HGNC NCBI
COSMIC:
COSM3761755 (not active)
MyVariant.info:
GRCh38 chr6:g.28296904G>A
GRCh37 chr6:g.28264681G>A
Revel Score:
ENST00000405948 0.071
ENST00000259883 0.071
gnomAD v2:
6:28264681 G / A
gnomAD v3:
6:28296904 G / A
gnomAD v4:
chr6-28296904-G-A
Joint Max Group AF 0.31486596 (EAS)
Genomes Max Group AF 0.29572154 (EAS)
Exomes Max Group AF 0.31600738 (EAS)
dbSNP:
3800324
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.28296904G>A , CM000668.2:g.28296904G>A GRCh38
NC_000006.11:g.28264681G>A , CM000668.1:g.28264681G>A GRCh37
NC_000006.10:g.28372660G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682144.1:c.731G>A MANE Select ENSP00000506997.1:p.Gly244Glu
ENST00000259883.3:c.731G>A ENSP00000259883.3:p.Gly244Glu
NM_001184743.1:c.731G>A NP_001171672.1:p.Gly244Glu
NM_032507.3:c.731G>A NP_115896.1:p.Gly244Glu
XM_006715228.1:c.-23G>A XP_006715291.1:n.-23G>A
XM_011514942.1:c.362G>A XP_011513244.1:p.Gly121Glu
XM_011514943.1:c.362G>A XP_011513245.1:p.Gly121Glu
XM_006715228.2:c.-23G>A XP_006715291.1:n.-23G>A
XM_011514942.3:c.362G>A XP_011513244.1:p.Gly121Glu
XM_011514943.3:c.362G>A XP_011513245.1:p.Gly121Glu
XM_011514944.2:c.-679G>A XP_011513246.1:n.-679G>A
XM_017011361.1:c.731G>A XP_016866850.1:p.Gly244Glu
XM_017011362.2:c.-23G>A XP_016866851.1:n.-23G>A
XM_017011363.2:c.-679G>A XP_016866852.1:n.-679G>A
NM_001184743.2:c.731G>A NP_001171672.1:p.Gly244Glu
NM_001386059.1:c.731G>A NP_001372988.1:p.Gly244Glu
NM_032507.4:c.731G>A MANE Select NP_115896.1:p.Gly244Glu
NR_169855.1:n.1116G>A
NR_169856.1:n.979G>A
NR_169857.1:n.959G>A
NR_169858.1:n.1129G>A
NR_169859.1:n.1116G>A
NR_169860.1:n.1109G>A
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