Canonical Allele Identifier: CA2982375
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs371415505
gnomAD v2: 4-81123711-A-G
gnomAD v3: 4-80202557-A-G
gnomAD v4: 4-80202557-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202557A>G , CM000666.2:g.80202557A>G GRCh38
NC_000004.11:g.81123711A>G , CM000666.1:g.81123711A>G GRCh37
NC_000004.10:g.81342735A>G NCBI36
NG_046725.1:g.22288A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.1095A>G MANE Select ENSP00000406998.2:p.Glu365=
ENST00000339711.8:c.1095A>G ENSP00000339764.4:p.Glu365=
ENST00000415738.2:c.1095A>G ENSP00000406998.2:p.Glu365=
ENST00000504452.5:c.1095A>G ENSP00000423985.1:p.Glu365=
ENST00000515013.5:c.1095A>G ENSP00000425149.1:p.Glu365=
NM_001099403.1:c.1095A>G NP_001092873.1:p.Glu365=
NM_020226.3:c.1095A>G NP_064611.3:p.Glu365=
XM_005263144.2:c.1098A>G XP_005263201.1:p.Glu366=
XM_005263145.2:c.1098A>G XP_005263202.1:p.Glu366=
XM_005263146.3:c.1095A>G XP_005263203.1:p.Glu365=
XM_011532133.1:c.1938A>G XP_011530435.1:p.Glu646=
XM_011532134.1:c.1935A>G XP_011530436.1:p.Glu645=
XM_011532135.1:c.1797A>G XP_011530437.1:p.Glu599=
XM_011532136.1:c.1650A>G XP_011530438.1:p.Glu550=
XM_011532137.1:c.1650A>G XP_011530439.1:p.Glu550=
XM_011532138.1:c.1650A>G XP_011530440.1:p.Glu550=
XM_011532139.1:c.1650A>G XP_011530441.1:p.Glu550=
XM_011532140.1:c.1650A>G XP_011530442.1:p.Glu550=
XM_011532141.1:c.1512A>G XP_011530443.1:p.Glu504=
XM_011532142.1:c.1491A>G XP_011530444.1:p.Glu497=
XM_005263146.4:c.1095A>G XP_005263203.1:p.Glu365=
XM_011532133.2:c.1938A>G XP_011530435.1:p.Glu646=
XM_011532135.2:c.1797A>G XP_011530437.1:p.Glu599=
XM_011532140.2:c.1650A>G XP_011530442.1:p.Glu550=
XM_011532141.3:c.1512A>G XP_011530443.1:p.Glu504=
XM_017008468.1:c.1647A>G XP_016863957.1:p.Glu549=
XM_017008469.1:c.1734A>G XP_016863958.1:p.Glu578=
XM_017008470.1:c.1650A>G XP_016863959.1:p.Glu550=
NM_001099403.2:c.1095A>G MANE Select NP_001092873.1:p.Glu365=
NM_020226.4:c.1095A>G NP_064611.3:p.Glu365=