Canonical Allele Identifier: CA357395452
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs768031665
gnomAD v2: 4-81123477-C-A
gnomAD v4: 4-80202323-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202323C>A , CM000666.2:g.80202323C>A GRCh38
NC_000004.11:g.81123477C>A , CM000666.1:g.81123477C>A GRCh37
NC_000004.10:g.81342501C>A NCBI36
NG_046725.1:g.22054C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.861C>A MANE Select ENSP00000406998.2:p.Ser287Arg
ENST00000339711.8:c.861C>A ENSP00000339764.4:p.Ser287Arg
ENST00000415738.2:c.861C>A ENSP00000406998.2:p.Ser287Arg
ENST00000504452.5:c.861C>A ENSP00000423985.1:p.Ser287Arg
ENST00000515013.5:c.861C>A ENSP00000425149.1:p.Ser287Arg
NM_001099403.1:c.861C>A NP_001092873.1:p.Ser287Arg
NM_020226.3:c.861C>A NP_064611.3:p.Ser287Arg
XM_005263144.2:c.864C>A XP_005263201.1:p.Ser288Arg
XM_005263145.2:c.864C>A XP_005263202.1:p.Ser288Arg
XM_005263146.3:c.861C>A XP_005263203.1:p.Ser287Arg
XM_011532133.1:c.1704C>A XP_011530435.1:p.Ser568Arg
XM_011532134.1:c.1701C>A XP_011530436.1:p.Ser567Arg
XM_011532135.1:c.1563C>A XP_011530437.1:p.Ser521Arg
XM_011532136.1:c.1416C>A XP_011530438.1:p.Ser472Arg
XM_011532137.1:c.1416C>A XP_011530439.1:p.Ser472Arg
XM_011532138.1:c.1416C>A XP_011530440.1:p.Ser472Arg
XM_011532139.1:c.1416C>A XP_011530441.1:p.Ser472Arg
XM_011532140.1:c.1416C>A XP_011530442.1:p.Ser472Arg
XM_011532141.1:c.1278C>A XP_011530443.1:p.Ser426Arg
XM_011532142.1:c.1257C>A XP_011530444.1:p.Ser419Arg
XM_005263146.4:c.861C>A XP_005263203.1:p.Ser287Arg
XM_011532133.2:c.1704C>A XP_011530435.1:p.Ser568Arg
XM_011532135.2:c.1563C>A XP_011530437.1:p.Ser521Arg
XM_011532140.2:c.1416C>A XP_011530442.1:p.Ser472Arg
XM_011532141.3:c.1278C>A XP_011530443.1:p.Ser426Arg
XM_017008468.1:c.1413C>A XP_016863957.1:p.Ser471Arg
XM_017008469.1:c.1500C>A XP_016863958.1:p.Ser500Arg
XM_017008470.1:c.1416C>A XP_016863959.1:p.Ser472Arg
NM_001099403.2:c.861C>A MANE Select NP_001092873.1:p.Ser287Arg
NM_020226.4:c.861C>A NP_064611.3:p.Ser287Arg