Canonical Allele Identifier: CA357398378

Gene: PRDM8

Linked Data

• dbSNP Id: rs1249390937
• gnomAD v2: 4-81123737-C-G
• gnomAD v4: 4-80202583-C-G
• MyVariant Identifiers: chr4:g.81123737C>G (hg19) ; chr4:g.80202583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202583C>G , CM000666.2:g.80202583C>G	GRCh38
NC_000004.11:g.81123737C>G , CM000666.1:g.81123737C>G	GRCh37
NC_000004.10:g.81342761C>G	NCBI36
NG_046725.1:g.22314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1121C>G MANE Select	ENSP00000406998.2:p.Pro374Arg
ENST00000339711.8:c.1121C>G	ENSP00000339764.4:p.Pro374Arg
ENST00000415738.2:c.1121C>G	ENSP00000406998.2:p.Pro374Arg
ENST00000504452.5:c.1121C>G	ENSP00000423985.1:p.Pro374Arg
ENST00000515013.5:c.1121C>G	ENSP00000425149.1:p.Pro374Arg
NM_001099403.1:c.1121C>G	NP_001092873.1:p.Pro374Arg
NM_020226.3:c.1121C>G	NP_064611.3:p.Pro374Arg
XM_005263144.2:c.1124C>G	XP_005263201.1:p.Pro375Arg
XM_005263145.2:c.1124C>G	XP_005263202.1:p.Pro375Arg
XM_005263146.3:c.1121C>G	XP_005263203.1:p.Pro374Arg
XM_011532133.1:c.1964C>G	XP_011530435.1:p.Pro655Arg
XM_011532134.1:c.1961C>G	XP_011530436.1:p.Pro654Arg
XM_011532135.1:c.1823C>G	XP_011530437.1:p.Pro608Arg
XM_011532136.1:c.1676C>G	XP_011530438.1:p.Pro559Arg
XM_011532137.1:c.1676C>G	XP_011530439.1:p.Pro559Arg
XM_011532138.1:c.1676C>G	XP_011530440.1:p.Pro559Arg
XM_011532139.1:c.1676C>G	XP_011530441.1:p.Pro559Arg
XM_011532140.1:c.1676C>G	XP_011530442.1:p.Pro559Arg
XM_011532141.1:c.1538C>G	XP_011530443.1:p.Pro513Arg
XM_011532142.1:c.1517C>G	XP_011530444.1:p.Pro506Arg
XM_005263146.4:c.1121C>G	XP_005263203.1:p.Pro374Arg
XM_011532133.2:c.1964C>G	XP_011530435.1:p.Pro655Arg
XM_011532135.2:c.1823C>G	XP_011530437.1:p.Pro608Arg
XM_011532140.2:c.1676C>G	XP_011530442.1:p.Pro559Arg
XM_011532141.3:c.1538C>G	XP_011530443.1:p.Pro513Arg
XM_017008468.1:c.1673C>G	XP_016863957.1:p.Pro558Arg
XM_017008469.1:c.1760C>G	XP_016863958.1:p.Pro587Arg
XM_017008470.1:c.1676C>G	XP_016863959.1:p.Pro559Arg
NM_001099403.2:c.1121C>G MANE Select	NP_001092873.1:p.Pro374Arg
NM_020226.4:c.1121C>G	NP_064611.3:p.Pro374Arg