Canonical Allele Identifier: CA357398104
Gene: PRDM8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1920774
ClinVar RCV Id: RCV002604250
dbSNP Id: rs1738587865
gnomAD v4: 4-80202541-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202541G>T , CM000666.2:g.80202541G>T GRCh38
NC_000004.11:g.81123695G>T , CM000666.1:g.81123695G>T GRCh37
NC_000004.10:g.81342719G>T NCBI36
NG_046725.1:g.22272G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.1079G>T MANE Select ENSP00000406998.2:p.Ser360Ile
ENST00000339711.8:c.1079G>T ENSP00000339764.4:p.Ser360Ile
ENST00000415738.2:c.1079G>T ENSP00000406998.2:p.Ser360Ile
ENST00000504452.5:c.1079G>T ENSP00000423985.1:p.Ser360Ile
ENST00000515013.5:c.1079G>T ENSP00000425149.1:p.Ser360Ile
NM_001099403.1:c.1079G>T NP_001092873.1:p.Ser360Ile
NM_020226.3:c.1079G>T NP_064611.3:p.Ser360Ile
XM_005263144.2:c.1082G>T XP_005263201.1:p.Ser361Ile
XM_005263145.2:c.1082G>T XP_005263202.1:p.Ser361Ile
XM_005263146.3:c.1079G>T XP_005263203.1:p.Ser360Ile
XM_011532133.1:c.1922G>T XP_011530435.1:p.Ser641Ile
XM_011532134.1:c.1919G>T XP_011530436.1:p.Ser640Ile
XM_011532135.1:c.1781G>T XP_011530437.1:p.Ser594Ile
XM_011532136.1:c.1634G>T XP_011530438.1:p.Ser545Ile
XM_011532137.1:c.1634G>T XP_011530439.1:p.Ser545Ile
XM_011532138.1:c.1634G>T XP_011530440.1:p.Ser545Ile
XM_011532139.1:c.1634G>T XP_011530441.1:p.Ser545Ile
XM_011532140.1:c.1634G>T XP_011530442.1:p.Ser545Ile
XM_011532141.1:c.1496G>T XP_011530443.1:p.Ser499Ile
XM_011532142.1:c.1475G>T XP_011530444.1:p.Ser492Ile
XM_005263146.4:c.1079G>T XP_005263203.1:p.Ser360Ile
XM_011532133.2:c.1922G>T XP_011530435.1:p.Ser641Ile
XM_011532135.2:c.1781G>T XP_011530437.1:p.Ser594Ile
XM_011532140.2:c.1634G>T XP_011530442.1:p.Ser545Ile
XM_011532141.3:c.1496G>T XP_011530443.1:p.Ser499Ile
XM_017008468.1:c.1631G>T XP_016863957.1:p.Ser544Ile
XM_017008469.1:c.1718G>T XP_016863958.1:p.Ser573Ile
XM_017008470.1:c.1634G>T XP_016863959.1:p.Ser545Ile
NM_001099403.2:c.1079G>T MANE Select NP_001092873.1:p.Ser360Ile
NM_020226.4:c.1079G>T NP_064611.3:p.Ser360Ile