Canonical Allele Identifier: CA357397212
Gene: PRDM8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1434308
ClinVar RCV Id: RCV001946289
dbSNP Id: rs1234825510
gnomAD v2: 4-81123572-A-C
gnomAD v4: 4-80202418-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202418A>C , CM000666.2:g.80202418A>C GRCh38
NC_000004.11:g.81123572A>C , CM000666.1:g.81123572A>C GRCh37
NC_000004.10:g.81342596A>C NCBI36
NG_046725.1:g.22149A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.956A>C MANE Select ENSP00000406998.2:p.Glu319Ala
ENST00000339711.8:c.956A>C ENSP00000339764.4:p.Glu319Ala
ENST00000415738.2:c.956A>C ENSP00000406998.2:p.Glu319Ala
ENST00000504452.5:c.956A>C ENSP00000423985.1:p.Glu319Ala
ENST00000515013.5:c.956A>C ENSP00000425149.1:p.Glu319Ala
NM_001099403.1:c.956A>C NP_001092873.1:p.Glu319Ala
NM_020226.3:c.956A>C NP_064611.3:p.Glu319Ala
XM_005263144.2:c.959A>C XP_005263201.1:p.Glu320Ala
XM_005263145.2:c.959A>C XP_005263202.1:p.Glu320Ala
XM_005263146.3:c.956A>C XP_005263203.1:p.Glu319Ala
XM_011532133.1:c.1799A>C XP_011530435.1:p.Glu600Ala
XM_011532134.1:c.1796A>C XP_011530436.1:p.Glu599Ala
XM_011532135.1:c.1658A>C XP_011530437.1:p.Glu553Ala
XM_011532136.1:c.1511A>C XP_011530438.1:p.Glu504Ala
XM_011532137.1:c.1511A>C XP_011530439.1:p.Glu504Ala
XM_011532138.1:c.1511A>C XP_011530440.1:p.Glu504Ala
XM_011532139.1:c.1511A>C XP_011530441.1:p.Glu504Ala
XM_011532140.1:c.1511A>C XP_011530442.1:p.Glu504Ala
XM_011532141.1:c.1373A>C XP_011530443.1:p.Glu458Ala
XM_011532142.1:c.1352A>C XP_011530444.1:p.Glu451Ala
XM_005263146.4:c.956A>C XP_005263203.1:p.Glu319Ala
XM_011532133.2:c.1799A>C XP_011530435.1:p.Glu600Ala
XM_011532135.2:c.1658A>C XP_011530437.1:p.Glu553Ala
XM_011532140.2:c.1511A>C XP_011530442.1:p.Glu504Ala
XM_011532141.3:c.1373A>C XP_011530443.1:p.Glu458Ala
XM_017008468.1:c.1508A>C XP_016863957.1:p.Glu503Ala
XM_017008469.1:c.1595A>C XP_016863958.1:p.Glu532Ala
XM_017008470.1:c.1511A>C XP_016863959.1:p.Glu504Ala
NM_001099403.2:c.956A>C MANE Select NP_001092873.1:p.Glu319Ala
NM_020226.4:c.956A>C NP_064611.3:p.Glu319Ala