Canonical Allele Identifier: CA357395586
Gene: PRDM8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400823
ClinVar RCV Id: RCV001896772
dbSNP Id: rs1294279847
gnomAD v2: 4-81123511-G-C
gnomAD v4: 4-80202357-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202357G>C , CM000666.2:g.80202357G>C GRCh38
NC_000004.11:g.81123511G>C , CM000666.1:g.81123511G>C GRCh37
NC_000004.10:g.81342535G>C NCBI36
NG_046725.1:g.22088G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.895G>C MANE Select ENSP00000406998.2:p.Glu299Gln
ENST00000339711.8:c.895G>C ENSP00000339764.4:p.Glu299Gln
ENST00000415738.2:c.895G>C ENSP00000406998.2:p.Glu299Gln
ENST00000504452.5:c.895G>C ENSP00000423985.1:p.Glu299Gln
ENST00000515013.5:c.895G>C ENSP00000425149.1:p.Glu299Gln
NM_001099403.1:c.895G>C NP_001092873.1:p.Glu299Gln
NM_020226.3:c.895G>C NP_064611.3:p.Glu299Gln
XM_005263144.2:c.898G>C XP_005263201.1:p.Glu300Gln
XM_005263145.2:c.898G>C XP_005263202.1:p.Glu300Gln
XM_005263146.3:c.895G>C XP_005263203.1:p.Glu299Gln
XM_011532133.1:c.1738G>C XP_011530435.1:p.Glu580Gln
XM_011532134.1:c.1735G>C XP_011530436.1:p.Glu579Gln
XM_011532135.1:c.1597G>C XP_011530437.1:p.Glu533Gln
XM_011532136.1:c.1450G>C XP_011530438.1:p.Glu484Gln
XM_011532137.1:c.1450G>C XP_011530439.1:p.Glu484Gln
XM_011532138.1:c.1450G>C XP_011530440.1:p.Glu484Gln
XM_011532139.1:c.1450G>C XP_011530441.1:p.Glu484Gln
XM_011532140.1:c.1450G>C XP_011530442.1:p.Glu484Gln
XM_011532141.1:c.1312G>C XP_011530443.1:p.Glu438Gln
XM_011532142.1:c.1291G>C XP_011530444.1:p.Glu431Gln
XM_005263146.4:c.895G>C XP_005263203.1:p.Glu299Gln
XM_011532133.2:c.1738G>C XP_011530435.1:p.Glu580Gln
XM_011532135.2:c.1597G>C XP_011530437.1:p.Glu533Gln
XM_011532140.2:c.1450G>C XP_011530442.1:p.Glu484Gln
XM_011532141.3:c.1312G>C XP_011530443.1:p.Glu438Gln
XM_017008468.1:c.1447G>C XP_016863957.1:p.Glu483Gln
XM_017008469.1:c.1534G>C XP_016863958.1:p.Glu512Gln
XM_017008470.1:c.1450G>C XP_016863959.1:p.Glu484Gln
NM_001099403.2:c.895G>C MANE Select NP_001092873.1:p.Glu299Gln
NM_020226.4:c.895G>C NP_064611.3:p.Glu299Gln