Canonical Allele Identifier: CA357396831
Gene: PRDM8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485368
ClinVar RCV Id: RCV002008612
dbSNP Id: rs1487456427
gnomAD v2: 4-81123535-A-G
gnomAD v3: 4-80202381-A-G
gnomAD v4: 4-80202381-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202381A>G , CM000666.2:g.80202381A>G GRCh38
NC_000004.11:g.81123535A>G , CM000666.1:g.81123535A>G GRCh37
NC_000004.10:g.81342559A>G NCBI36
NG_046725.1:g.22112A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.919A>G MANE Select ENSP00000406998.2:p.Thr307Ala
ENST00000339711.8:c.919A>G ENSP00000339764.4:p.Thr307Ala
ENST00000415738.2:c.919A>G ENSP00000406998.2:p.Thr307Ala
ENST00000504452.5:c.919A>G ENSP00000423985.1:p.Thr307Ala
ENST00000515013.5:c.919A>G ENSP00000425149.1:p.Thr307Ala
NM_001099403.1:c.919A>G NP_001092873.1:p.Thr307Ala
NM_020226.3:c.919A>G NP_064611.3:p.Thr307Ala
XM_005263144.2:c.922A>G XP_005263201.1:p.Thr308Ala
XM_005263145.2:c.922A>G XP_005263202.1:p.Thr308Ala
XM_005263146.3:c.919A>G XP_005263203.1:p.Thr307Ala
XM_011532133.1:c.1762A>G XP_011530435.1:p.Thr588Ala
XM_011532134.1:c.1759A>G XP_011530436.1:p.Thr587Ala
XM_011532135.1:c.1621A>G XP_011530437.1:p.Thr541Ala
XM_011532136.1:c.1474A>G XP_011530438.1:p.Thr492Ala
XM_011532137.1:c.1474A>G XP_011530439.1:p.Thr492Ala
XM_011532138.1:c.1474A>G XP_011530440.1:p.Thr492Ala
XM_011532139.1:c.1474A>G XP_011530441.1:p.Thr492Ala
XM_011532140.1:c.1474A>G XP_011530442.1:p.Thr492Ala
XM_011532141.1:c.1336A>G XP_011530443.1:p.Thr446Ala
XM_011532142.1:c.1315A>G XP_011530444.1:p.Thr439Ala
XM_005263146.4:c.919A>G XP_005263203.1:p.Thr307Ala
XM_011532133.2:c.1762A>G XP_011530435.1:p.Thr588Ala
XM_011532135.2:c.1621A>G XP_011530437.1:p.Thr541Ala
XM_011532140.2:c.1474A>G XP_011530442.1:p.Thr492Ala
XM_011532141.3:c.1336A>G XP_011530443.1:p.Thr446Ala
XM_017008468.1:c.1471A>G XP_016863957.1:p.Thr491Ala
XM_017008469.1:c.1558A>G XP_016863958.1:p.Thr520Ala
XM_017008470.1:c.1474A>G XP_016863959.1:p.Thr492Ala
NM_001099403.2:c.919A>G MANE Select NP_001092873.1:p.Thr307Ala
NM_020226.4:c.919A>G NP_064611.3:p.Thr307Ala