Canonical Allele Identifier: CA357395163

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 1002932
• ClinVar RCV Id: RCV001299425
• dbSNP Id: rs1738540197
• gnomAD v4: 4-80202223-G-C
• MyVariant Identifiers: chr4:g.81123377G>C (hg19) ; chr4:g.80202223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202223G>C , CM000666.2:g.80202223G>C	GRCh38
NC_000004.11:g.81123377G>C , CM000666.1:g.81123377G>C	GRCh37
NC_000004.10:g.81342401G>C	NCBI36
NG_046725.1:g.21954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.761G>C MANE Select	ENSP00000406998.2:p.Ser254Thr
ENST00000339711.8:c.761G>C	ENSP00000339764.4:p.Ser254Thr
ENST00000415738.2:c.761G>C	ENSP00000406998.2:p.Ser254Thr
ENST00000504452.5:c.761G>C	ENSP00000423985.1:p.Ser254Thr
ENST00000515013.5:c.761G>C	ENSP00000425149.1:p.Ser254Thr
NM_001099403.1:c.761G>C	NP_001092873.1:p.Ser254Thr
NM_020226.3:c.761G>C	NP_064611.3:p.Ser254Thr
XM_005263144.2:c.764G>C	XP_005263201.1:p.Ser255Thr
XM_005263145.2:c.764G>C	XP_005263202.1:p.Ser255Thr
XM_005263146.3:c.761G>C	XP_005263203.1:p.Ser254Thr
XM_011532133.1:c.1604G>C	XP_011530435.1:p.Ser535Thr
XM_011532134.1:c.1601G>C	XP_011530436.1:p.Ser534Thr
XM_011532135.1:c.1463G>C	XP_011530437.1:p.Ser488Thr
XM_011532136.1:c.1316G>C	XP_011530438.1:p.Ser439Thr
XM_011532137.1:c.1316G>C	XP_011530439.1:p.Ser439Thr
XM_011532138.1:c.1316G>C	XP_011530440.1:p.Ser439Thr
XM_011532139.1:c.1316G>C	XP_011530441.1:p.Ser439Thr
XM_011532140.1:c.1316G>C	XP_011530442.1:p.Ser439Thr
XM_011532141.1:c.1178G>C	XP_011530443.1:p.Ser393Thr
XM_011532142.1:c.1157G>C	XP_011530444.1:p.Ser386Thr
XM_005263146.4:c.761G>C	XP_005263203.1:p.Ser254Thr
XM_011532133.2:c.1604G>C	XP_011530435.1:p.Ser535Thr
XM_011532135.2:c.1463G>C	XP_011530437.1:p.Ser488Thr
XM_011532140.2:c.1316G>C	XP_011530442.1:p.Ser439Thr
XM_011532141.3:c.1178G>C	XP_011530443.1:p.Ser393Thr
XM_017008468.1:c.1313G>C	XP_016863957.1:p.Ser438Thr
XM_017008469.1:c.1400G>C	XP_016863958.1:p.Ser467Thr
XM_017008470.1:c.1316G>C	XP_016863959.1:p.Ser439Thr
NM_001099403.2:c.761G>C MANE Select	NP_001092873.1:p.Ser254Thr
NM_020226.4:c.761G>C	NP_064611.3:p.Ser254Thr