Canonical Allele Identifier: CA357398055
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1269467673
gnomAD v3: 4-80202532-C-T
gnomAD v4: 4-80202532-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202532C>T , CM000666.2:g.80202532C>T GRCh38
NC_000004.11:g.81123686C>T , CM000666.1:g.81123686C>T GRCh37
NC_000004.10:g.81342710C>T NCBI36
NG_046725.1:g.22263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.1070C>T MANE Select ENSP00000406998.2:p.Ala357Val
ENST00000339711.8:c.1070C>T ENSP00000339764.4:p.Ala357Val
ENST00000415738.2:c.1070C>T ENSP00000406998.2:p.Ala357Val
ENST00000504452.5:c.1070C>T ENSP00000423985.1:p.Ala357Val
ENST00000515013.5:c.1070C>T ENSP00000425149.1:p.Ala357Val
NM_001099403.1:c.1070C>T NP_001092873.1:p.Ala357Val
NM_020226.3:c.1070C>T NP_064611.3:p.Ala357Val
XM_005263144.2:c.1073C>T XP_005263201.1:p.Ala358Val
XM_005263145.2:c.1073C>T XP_005263202.1:p.Ala358Val
XM_005263146.3:c.1070C>T XP_005263203.1:p.Ala357Val
XM_011532133.1:c.1913C>T XP_011530435.1:p.Ala638Val
XM_011532134.1:c.1910C>T XP_011530436.1:p.Ala637Val
XM_011532135.1:c.1772C>T XP_011530437.1:p.Ala591Val
XM_011532136.1:c.1625C>T XP_011530438.1:p.Ala542Val
XM_011532137.1:c.1625C>T XP_011530439.1:p.Ala542Val
XM_011532138.1:c.1625C>T XP_011530440.1:p.Ala542Val
XM_011532139.1:c.1625C>T XP_011530441.1:p.Ala542Val
XM_011532140.1:c.1625C>T XP_011530442.1:p.Ala542Val
XM_011532141.1:c.1487C>T XP_011530443.1:p.Ala496Val
XM_011532142.1:c.1466C>T XP_011530444.1:p.Ala489Val
XM_005263146.4:c.1070C>T XP_005263203.1:p.Ala357Val
XM_011532133.2:c.1913C>T XP_011530435.1:p.Ala638Val
XM_011532135.2:c.1772C>T XP_011530437.1:p.Ala591Val
XM_011532140.2:c.1625C>T XP_011530442.1:p.Ala542Val
XM_011532141.3:c.1487C>T XP_011530443.1:p.Ala496Val
XM_017008468.1:c.1622C>T XP_016863957.1:p.Ala541Val
XM_017008469.1:c.1709C>T XP_016863958.1:p.Ala570Val
XM_017008470.1:c.1625C>T XP_016863959.1:p.Ala542Val
NM_001099403.2:c.1070C>T MANE Select NP_001092873.1:p.Ala357Val
NM_020226.4:c.1070C>T NP_064611.3:p.Ala357Val