Canonical Allele Identifier: CA357397554
Gene: PRDM8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062376
ClinVar RCV Id: RCV001372083
dbSNP Id: rs1177151496
gnomAD v2: 4-81123608-G-A
gnomAD v3: 4-80202454-G-A
gnomAD v4: 4-80202454-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202454G>A , CM000666.2:g.80202454G>A GRCh38
NC_000004.11:g.81123608G>A , CM000666.1:g.81123608G>A GRCh37
NC_000004.10:g.81342632G>A NCBI36
NG_046725.1:g.22185G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.992G>A MANE Select ENSP00000406998.2:p.Gly331Glu
ENST00000339711.8:c.992G>A ENSP00000339764.4:p.Gly331Glu
ENST00000415738.2:c.992G>A ENSP00000406998.2:p.Gly331Glu
ENST00000504452.5:c.992G>A ENSP00000423985.1:p.Gly331Glu
ENST00000515013.5:c.992G>A ENSP00000425149.1:p.Gly331Glu
NM_001099403.1:c.992G>A NP_001092873.1:p.Gly331Glu
NM_020226.3:c.992G>A NP_064611.3:p.Gly331Glu
XM_005263144.2:c.995G>A XP_005263201.1:p.Gly332Glu
XM_005263145.2:c.995G>A XP_005263202.1:p.Gly332Glu
XM_005263146.3:c.992G>A XP_005263203.1:p.Gly331Glu
XM_011532133.1:c.1835G>A XP_011530435.1:p.Gly612Glu
XM_011532134.1:c.1832G>A XP_011530436.1:p.Gly611Glu
XM_011532135.1:c.1694G>A XP_011530437.1:p.Gly565Glu
XM_011532136.1:c.1547G>A XP_011530438.1:p.Gly516Glu
XM_011532137.1:c.1547G>A XP_011530439.1:p.Gly516Glu
XM_011532138.1:c.1547G>A XP_011530440.1:p.Gly516Glu
XM_011532139.1:c.1547G>A XP_011530441.1:p.Gly516Glu
XM_011532140.1:c.1547G>A XP_011530442.1:p.Gly516Glu
XM_011532141.1:c.1409G>A XP_011530443.1:p.Gly470Glu
XM_011532142.1:c.1388G>A XP_011530444.1:p.Gly463Glu
XM_005263146.4:c.992G>A XP_005263203.1:p.Gly331Glu
XM_011532133.2:c.1835G>A XP_011530435.1:p.Gly612Glu
XM_011532135.2:c.1694G>A XP_011530437.1:p.Gly565Glu
XM_011532140.2:c.1547G>A XP_011530442.1:p.Gly516Glu
XM_011532141.3:c.1409G>A XP_011530443.1:p.Gly470Glu
XM_017008468.1:c.1544G>A XP_016863957.1:p.Gly515Glu
XM_017008469.1:c.1631G>A XP_016863958.1:p.Gly544Glu
XM_017008470.1:c.1547G>A XP_016863959.1:p.Gly516Glu
NM_001099403.2:c.992G>A MANE Select NP_001092873.1:p.Gly331Glu
NM_020226.4:c.992G>A NP_064611.3:p.Gly331Glu