Canonical Allele Identifier: CA357396829
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1353449700
gnomAD v3: 4-80202379-C-T
gnomAD v4: 4-80202379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202379C>T , CM000666.2:g.80202379C>T GRCh38
NC_000004.11:g.81123533C>T , CM000666.1:g.81123533C>T GRCh37
NC_000004.10:g.81342557C>T NCBI36
NG_046725.1:g.22110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.917C>T MANE Select ENSP00000406998.2:p.Ala306Val
ENST00000339711.8:c.917C>T ENSP00000339764.4:p.Ala306Val
ENST00000415738.2:c.917C>T ENSP00000406998.2:p.Ala306Val
ENST00000504452.5:c.917C>T ENSP00000423985.1:p.Ala306Val
ENST00000515013.5:c.917C>T ENSP00000425149.1:p.Ala306Val
NM_001099403.1:c.917C>T NP_001092873.1:p.Ala306Val
NM_020226.3:c.917C>T NP_064611.3:p.Ala306Val
XM_005263144.2:c.920C>T XP_005263201.1:p.Ala307Val
XM_005263145.2:c.920C>T XP_005263202.1:p.Ala307Val
XM_005263146.3:c.917C>T XP_005263203.1:p.Ala306Val
XM_011532133.1:c.1760C>T XP_011530435.1:p.Ala587Val
XM_011532134.1:c.1757C>T XP_011530436.1:p.Ala586Val
XM_011532135.1:c.1619C>T XP_011530437.1:p.Ala540Val
XM_011532136.1:c.1472C>T XP_011530438.1:p.Ala491Val
XM_011532137.1:c.1472C>T XP_011530439.1:p.Ala491Val
XM_011532138.1:c.1472C>T XP_011530440.1:p.Ala491Val
XM_011532139.1:c.1472C>T XP_011530441.1:p.Ala491Val
XM_011532140.1:c.1472C>T XP_011530442.1:p.Ala491Val
XM_011532141.1:c.1334C>T XP_011530443.1:p.Ala445Val
XM_011532142.1:c.1313C>T XP_011530444.1:p.Ala438Val
XM_005263146.4:c.917C>T XP_005263203.1:p.Ala306Val
XM_011532133.2:c.1760C>T XP_011530435.1:p.Ala587Val
XM_011532135.2:c.1619C>T XP_011530437.1:p.Ala540Val
XM_011532140.2:c.1472C>T XP_011530442.1:p.Ala491Val
XM_011532141.3:c.1334C>T XP_011530443.1:p.Ala445Val
XM_017008468.1:c.1469C>T XP_016863957.1:p.Ala490Val
XM_017008469.1:c.1556C>T XP_016863958.1:p.Ala519Val
XM_017008470.1:c.1472C>T XP_016863959.1:p.Ala491Val
NM_001099403.2:c.917C>T MANE Select NP_001092873.1:p.Ala306Val
NM_020226.4:c.917C>T NP_064611.3:p.Ala306Val