Canonical Allele Identifier: CA357397702
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1374485795
gnomAD v2: 4-81123625-G-T
gnomAD v4: 4-80202471-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202471G>T , CM000666.2:g.80202471G>T GRCh38
NC_000004.11:g.81123625G>T , CM000666.1:g.81123625G>T GRCh37
NC_000004.10:g.81342649G>T NCBI36
NG_046725.1:g.22202G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.1009G>T MANE Select ENSP00000406998.2:p.Val337Leu
ENST00000339711.8:c.1009G>T ENSP00000339764.4:p.Val337Leu
ENST00000415738.2:c.1009G>T ENSP00000406998.2:p.Val337Leu
ENST00000504452.5:c.1009G>T ENSP00000423985.1:p.Val337Leu
ENST00000515013.5:c.1009G>T ENSP00000425149.1:p.Val337Leu
NM_001099403.1:c.1009G>T NP_001092873.1:p.Val337Leu
NM_020226.3:c.1009G>T NP_064611.3:p.Val337Leu
XM_005263144.2:c.1012G>T XP_005263201.1:p.Val338Leu
XM_005263145.2:c.1012G>T XP_005263202.1:p.Val338Leu
XM_005263146.3:c.1009G>T XP_005263203.1:p.Val337Leu
XM_011532133.1:c.1852G>T XP_011530435.1:p.Val618Leu
XM_011532134.1:c.1849G>T XP_011530436.1:p.Val617Leu
XM_011532135.1:c.1711G>T XP_011530437.1:p.Val571Leu
XM_011532136.1:c.1564G>T XP_011530438.1:p.Val522Leu
XM_011532137.1:c.1564G>T XP_011530439.1:p.Val522Leu
XM_011532138.1:c.1564G>T XP_011530440.1:p.Val522Leu
XM_011532139.1:c.1564G>T XP_011530441.1:p.Val522Leu
XM_011532140.1:c.1564G>T XP_011530442.1:p.Val522Leu
XM_011532141.1:c.1426G>T XP_011530443.1:p.Val476Leu
XM_011532142.1:c.1405G>T XP_011530444.1:p.Val469Leu
XM_005263146.4:c.1009G>T XP_005263203.1:p.Val337Leu
XM_011532133.2:c.1852G>T XP_011530435.1:p.Val618Leu
XM_011532135.2:c.1711G>T XP_011530437.1:p.Val571Leu
XM_011532140.2:c.1564G>T XP_011530442.1:p.Val522Leu
XM_011532141.3:c.1426G>T XP_011530443.1:p.Val476Leu
XM_017008468.1:c.1561G>T XP_016863957.1:p.Val521Leu
XM_017008469.1:c.1648G>T XP_016863958.1:p.Val550Leu
XM_017008470.1:c.1564G>T XP_016863959.1:p.Val522Leu
NM_001099403.2:c.1009G>T MANE Select NP_001092873.1:p.Val337Leu
NM_020226.4:c.1009G>T NP_064611.3:p.Val337Leu