Canonical Allele Identifier: CA357397050
Gene: PRDM8 HGNC NCBI

Linked Data

gnomAD v4: 4-80202403-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202403G>T , CM000666.2:g.80202403G>T GRCh38
NC_000004.11:g.81123557G>T , CM000666.1:g.81123557G>T GRCh37
NC_000004.10:g.81342581G>T NCBI36
NG_046725.1:g.22134G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.941G>T MANE Select ENSP00000406998.2:p.Arg314Met
ENST00000339711.8:c.941G>T ENSP00000339764.4:p.Arg314Met
ENST00000415738.2:c.941G>T ENSP00000406998.2:p.Arg314Met
ENST00000504452.5:c.941G>T ENSP00000423985.1:p.Arg314Met
ENST00000515013.5:c.941G>T ENSP00000425149.1:p.Arg314Met
NM_001099403.1:c.941G>T NP_001092873.1:p.Arg314Met
NM_020226.3:c.941G>T NP_064611.3:p.Arg314Met
XM_005263144.2:c.944G>T XP_005263201.1:p.Arg315Met
XM_005263145.2:c.944G>T XP_005263202.1:p.Arg315Met
XM_005263146.3:c.941G>T XP_005263203.1:p.Arg314Met
XM_011532133.1:c.1784G>T XP_011530435.1:p.Arg595Met
XM_011532134.1:c.1781G>T XP_011530436.1:p.Arg594Met
XM_011532135.1:c.1643G>T XP_011530437.1:p.Arg548Met
XM_011532136.1:c.1496G>T XP_011530438.1:p.Arg499Met
XM_011532137.1:c.1496G>T XP_011530439.1:p.Arg499Met
XM_011532138.1:c.1496G>T XP_011530440.1:p.Arg499Met
XM_011532139.1:c.1496G>T XP_011530441.1:p.Arg499Met
XM_011532140.1:c.1496G>T XP_011530442.1:p.Arg499Met
XM_011532141.1:c.1358G>T XP_011530443.1:p.Arg453Met
XM_011532142.1:c.1337G>T XP_011530444.1:p.Arg446Met
XM_005263146.4:c.941G>T XP_005263203.1:p.Arg314Met
XM_011532133.2:c.1784G>T XP_011530435.1:p.Arg595Met
XM_011532135.2:c.1643G>T XP_011530437.1:p.Arg548Met
XM_011532140.2:c.1496G>T XP_011530442.1:p.Arg499Met
XM_011532141.3:c.1358G>T XP_011530443.1:p.Arg453Met
XM_017008468.1:c.1493G>T XP_016863957.1:p.Arg498Met
XM_017008469.1:c.1580G>T XP_016863958.1:p.Arg527Met
XM_017008470.1:c.1496G>T XP_016863959.1:p.Arg499Met
NM_001099403.2:c.941G>T MANE Select NP_001092873.1:p.Arg314Met
NM_020226.4:c.941G>T NP_064611.3:p.Arg314Met