Canonical Allele Identifier: CA135819640
Gene: PGBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.28289600T>C , CM000668.2:g.28289600T>C GRCh38
NC_000006.11:g.28257377T>C , CM000668.1:g.28257377T>C GRCh37
NC_000006.10:g.28365356T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682144.1:c.642+2432T>C MANE Select ENSP00000506997.1:n.642+2432T>C
ENST00000259883.3:c.642+2432T>C ENSP00000259883.3:n.642+2432T>C
NM_001184743.1:c.642+2432T>C NP_001171672.1:n.642+2432T>C
NM_032507.3:c.642+2432T>C NP_115896.1:n.642+2432T>C
XM_006715228.1:c.-112+2432T>C XP_006715291.1:n.-112+2432T>C
XM_011514942.1:c.273+2432T>C XP_011513244.1:n.273+2432T>C
XM_011514943.1:c.273+2432T>C XP_011513245.1:n.273+2432T>C
XM_006715228.2:c.-112+2432T>C XP_006715291.1:n.-112+2432T>C
XM_011514942.3:c.273+2432T>C XP_011513244.1:n.273+2432T>C
XM_011514943.3:c.273+2432T>C XP_011513245.1:n.273+2432T>C
XM_011514944.2:c.-768+2432T>C XP_011513246.1:n.-768+2432T>C
XM_017011361.1:c.642+2432T>C XP_016866850.1:n.642+2432T>C
XM_017011362.2:c.-112+2432T>C XP_016866851.1:n.-112+2432T>C
XM_017011363.2:c.-768+2432T>C XP_016866852.1:n.-768+2432T>C
NM_001184743.2:c.642+2432T>C NP_001171672.1:n.642+2432T>C
NM_001386059.1:c.642+2432T>C NP_001372988.1:n.642+2432T>C
NM_032507.4:c.642+2432T>C MANE Select NP_115896.1:n.642+2432T>C
NR_169855.1:n.1027+2432T>C
NR_169856.1:n.890+2432T>C
NR_169857.1:n.870+2432T>C
NR_169858.1:n.1040+2432T>C
NR_169859.1:n.1027+2432T>C
NR_169860.1:n.1020+2432T>C
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