Canonical Allele Identifier: CA357394979
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1465346303
gnomAD v4: 4-80202171-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202171C>G , CM000666.2:g.80202171C>G GRCh38
NC_000004.11:g.81123325C>G , CM000666.1:g.81123325C>G GRCh37
NC_000004.10:g.81342349C>G NCBI36
NG_046725.1:g.21902C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.709C>G MANE Select ENSP00000406998.2:p.Pro237Ala
ENST00000339711.8:c.709C>G ENSP00000339764.4:p.Pro237Ala
ENST00000415738.2:c.709C>G ENSP00000406998.2:p.Pro237Ala
ENST00000504452.5:c.709C>G ENSP00000423985.1:p.Pro237Ala
ENST00000515013.5:c.709C>G ENSP00000425149.1:p.Pro237Ala
NM_001099403.1:c.709C>G NP_001092873.1:p.Pro237Ala
NM_020226.3:c.709C>G NP_064611.3:p.Pro237Ala
XM_005263144.2:c.712C>G XP_005263201.1:p.Pro238Ala
XM_005263145.2:c.712C>G XP_005263202.1:p.Pro238Ala
XM_005263146.3:c.709C>G XP_005263203.1:p.Pro237Ala
XM_011532133.1:c.1552C>G XP_011530435.1:p.Pro518Ala
XM_011532134.1:c.1549C>G XP_011530436.1:p.Pro517Ala
XM_011532135.1:c.1411C>G XP_011530437.1:p.Pro471Ala
XM_011532136.1:c.1264C>G XP_011530438.1:p.Pro422Ala
XM_011532137.1:c.1264C>G XP_011530439.1:p.Pro422Ala
XM_011532138.1:c.1264C>G XP_011530440.1:p.Pro422Ala
XM_011532139.1:c.1264C>G XP_011530441.1:p.Pro422Ala
XM_011532140.1:c.1264C>G XP_011530442.1:p.Pro422Ala
XM_011532141.1:c.1126C>G XP_011530443.1:p.Pro376Ala
XM_011532142.1:c.1105C>G XP_011530444.1:p.Pro369Ala
XM_005263146.4:c.709C>G XP_005263203.1:p.Pro237Ala
XM_011532133.2:c.1552C>G XP_011530435.1:p.Pro518Ala
XM_011532135.2:c.1411C>G XP_011530437.1:p.Pro471Ala
XM_011532140.2:c.1264C>G XP_011530442.1:p.Pro422Ala
XM_011532141.3:c.1126C>G XP_011530443.1:p.Pro376Ala
XM_017008468.1:c.1261C>G XP_016863957.1:p.Pro421Ala
XM_017008469.1:c.1348C>G XP_016863958.1:p.Pro450Ala
XM_017008470.1:c.1264C>G XP_016863959.1:p.Pro422Ala
NM_001099403.2:c.709C>G MANE Select NP_001092873.1:p.Pro237Ala
NM_020226.4:c.709C>G NP_064611.3:p.Pro237Ala