Canonical Allele Identifier: CA357397251
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1292456213
gnomAD v2: 4-81123577-G-A
gnomAD v3: 4-80202423-G-A
gnomAD v4: 4-80202423-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202423G>A , CM000666.2:g.80202423G>A GRCh38
NC_000004.11:g.81123577G>A , CM000666.1:g.81123577G>A GRCh37
NC_000004.10:g.81342601G>A NCBI36
NG_046725.1:g.22154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.961G>A MANE Select ENSP00000406998.2:p.Ala321Thr
ENST00000339711.8:c.961G>A ENSP00000339764.4:p.Ala321Thr
ENST00000415738.2:c.961G>A ENSP00000406998.2:p.Ala321Thr
ENST00000504452.5:c.961G>A ENSP00000423985.1:p.Ala321Thr
ENST00000515013.5:c.961G>A ENSP00000425149.1:p.Ala321Thr
NM_001099403.1:c.961G>A NP_001092873.1:p.Ala321Thr
NM_020226.3:c.961G>A NP_064611.3:p.Ala321Thr
XM_005263144.2:c.964G>A XP_005263201.1:p.Ala322Thr
XM_005263145.2:c.964G>A XP_005263202.1:p.Ala322Thr
XM_005263146.3:c.961G>A XP_005263203.1:p.Ala321Thr
XM_011532133.1:c.1804G>A XP_011530435.1:p.Ala602Thr
XM_011532134.1:c.1801G>A XP_011530436.1:p.Ala601Thr
XM_011532135.1:c.1663G>A XP_011530437.1:p.Ala555Thr
XM_011532136.1:c.1516G>A XP_011530438.1:p.Ala506Thr
XM_011532137.1:c.1516G>A XP_011530439.1:p.Ala506Thr
XM_011532138.1:c.1516G>A XP_011530440.1:p.Ala506Thr
XM_011532139.1:c.1516G>A XP_011530441.1:p.Ala506Thr
XM_011532140.1:c.1516G>A XP_011530442.1:p.Ala506Thr
XM_011532141.1:c.1378G>A XP_011530443.1:p.Ala460Thr
XM_011532142.1:c.1357G>A XP_011530444.1:p.Ala453Thr
XM_005263146.4:c.961G>A XP_005263203.1:p.Ala321Thr
XM_011532133.2:c.1804G>A XP_011530435.1:p.Ala602Thr
XM_011532135.2:c.1663G>A XP_011530437.1:p.Ala555Thr
XM_011532140.2:c.1516G>A XP_011530442.1:p.Ala506Thr
XM_011532141.3:c.1378G>A XP_011530443.1:p.Ala460Thr
XM_017008468.1:c.1513G>A XP_016863957.1:p.Ala505Thr
XM_017008469.1:c.1600G>A XP_016863958.1:p.Ala534Thr
XM_017008470.1:c.1516G>A XP_016863959.1:p.Ala506Thr
NM_001099403.2:c.961G>A MANE Select NP_001092873.1:p.Ala321Thr
NM_020226.4:c.961G>A NP_064611.3:p.Ala321Thr