Canonical Allele Identifier: CA357396773
Gene: PRDM8 HGNC NCBI

Linked Data

dbSNP Id: rs1374834597
gnomAD v2: 4-81123530-T-A
gnomAD v3: 4-80202376-T-A
gnomAD v4: 4-80202376-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80202376T>A , CM000666.2:g.80202376T>A GRCh38
NC_000004.11:g.81123530T>A , CM000666.1:g.81123530T>A GRCh37
NC_000004.10:g.81342554T>A NCBI36
NG_046725.1:g.22107T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415738.3:c.914T>A MANE Select ENSP00000406998.2:p.Ile305Asn
ENST00000339711.8:c.914T>A ENSP00000339764.4:p.Ile305Asn
ENST00000415738.2:c.914T>A ENSP00000406998.2:p.Ile305Asn
ENST00000504452.5:c.914T>A ENSP00000423985.1:p.Ile305Asn
ENST00000515013.5:c.914T>A ENSP00000425149.1:p.Ile305Asn
NM_001099403.1:c.914T>A NP_001092873.1:p.Ile305Asn
NM_020226.3:c.914T>A NP_064611.3:p.Ile305Asn
XM_005263144.2:c.917T>A XP_005263201.1:p.Ile306Asn
XM_005263145.2:c.917T>A XP_005263202.1:p.Ile306Asn
XM_005263146.3:c.914T>A XP_005263203.1:p.Ile305Asn
XM_011532133.1:c.1757T>A XP_011530435.1:p.Ile586Asn
XM_011532134.1:c.1754T>A XP_011530436.1:p.Ile585Asn
XM_011532135.1:c.1616T>A XP_011530437.1:p.Ile539Asn
XM_011532136.1:c.1469T>A XP_011530438.1:p.Ile490Asn
XM_011532137.1:c.1469T>A XP_011530439.1:p.Ile490Asn
XM_011532138.1:c.1469T>A XP_011530440.1:p.Ile490Asn
XM_011532139.1:c.1469T>A XP_011530441.1:p.Ile490Asn
XM_011532140.1:c.1469T>A XP_011530442.1:p.Ile490Asn
XM_011532141.1:c.1331T>A XP_011530443.1:p.Ile444Asn
XM_011532142.1:c.1310T>A XP_011530444.1:p.Ile437Asn
XM_005263146.4:c.914T>A XP_005263203.1:p.Ile305Asn
XM_011532133.2:c.1757T>A XP_011530435.1:p.Ile586Asn
XM_011532135.2:c.1616T>A XP_011530437.1:p.Ile539Asn
XM_011532140.2:c.1469T>A XP_011530442.1:p.Ile490Asn
XM_011532141.3:c.1331T>A XP_011530443.1:p.Ile444Asn
XM_017008468.1:c.1466T>A XP_016863957.1:p.Ile489Asn
XM_017008469.1:c.1553T>A XP_016863958.1:p.Ile518Asn
XM_017008470.1:c.1469T>A XP_016863959.1:p.Ile490Asn
NM_001099403.2:c.914T>A MANE Select NP_001092873.1:p.Ile305Asn
NM_020226.4:c.914T>A NP_064611.3:p.Ile305Asn