Canonical Allele Identifier: CA357397727

Gene: PRDM8

Linked Data

• ClinVar Variation Id: 2276058
• ClinVar RCV Id: RCV004126739
• dbSNP Id: rs1738579630
• gnomAD v4: 4-80202475-A-C
• MyVariant Identifiers: chr4:g.81123629A>C (hg19) ; chr4:g.80202475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202475A>C , CM000666.2:g.80202475A>C	GRCh38
NC_000004.11:g.81123629A>C , CM000666.1:g.81123629A>C	GRCh37
NC_000004.10:g.81342653A>C	NCBI36
NG_046725.1:g.22206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1013A>C MANE Select	ENSP00000406998.2:p.Glu338Ala
ENST00000339711.8:c.1013A>C	ENSP00000339764.4:p.Glu338Ala
ENST00000415738.2:c.1013A>C	ENSP00000406998.2:p.Glu338Ala
ENST00000504452.5:c.1013A>C	ENSP00000423985.1:p.Glu338Ala
ENST00000515013.5:c.1013A>C	ENSP00000425149.1:p.Glu338Ala
NM_001099403.1:c.1013A>C	NP_001092873.1:p.Glu338Ala
NM_020226.3:c.1013A>C	NP_064611.3:p.Glu338Ala
XM_005263144.2:c.1016A>C	XP_005263201.1:p.Glu339Ala
XM_005263145.2:c.1016A>C	XP_005263202.1:p.Glu339Ala
XM_005263146.3:c.1013A>C	XP_005263203.1:p.Glu338Ala
XM_011532133.1:c.1856A>C	XP_011530435.1:p.Glu619Ala
XM_011532134.1:c.1853A>C	XP_011530436.1:p.Glu618Ala
XM_011532135.1:c.1715A>C	XP_011530437.1:p.Glu572Ala
XM_011532136.1:c.1568A>C	XP_011530438.1:p.Glu523Ala
XM_011532137.1:c.1568A>C	XP_011530439.1:p.Glu523Ala
XM_011532138.1:c.1568A>C	XP_011530440.1:p.Glu523Ala
XM_011532139.1:c.1568A>C	XP_011530441.1:p.Glu523Ala
XM_011532140.1:c.1568A>C	XP_011530442.1:p.Glu523Ala
XM_011532141.1:c.1430A>C	XP_011530443.1:p.Glu477Ala
XM_011532142.1:c.1409A>C	XP_011530444.1:p.Glu470Ala
XM_005263146.4:c.1013A>C	XP_005263203.1:p.Glu338Ala
XM_011532133.2:c.1856A>C	XP_011530435.1:p.Glu619Ala
XM_011532135.2:c.1715A>C	XP_011530437.1:p.Glu572Ala
XM_011532140.2:c.1568A>C	XP_011530442.1:p.Glu523Ala
XM_011532141.3:c.1430A>C	XP_011530443.1:p.Glu477Ala
XM_017008468.1:c.1565A>C	XP_016863957.1:p.Glu522Ala
XM_017008469.1:c.1652A>C	XP_016863958.1:p.Glu551Ala
XM_017008470.1:c.1568A>C	XP_016863959.1:p.Glu523Ala
NM_001099403.2:c.1013A>C MANE Select	NP_001092873.1:p.Glu338Ala
NM_020226.4:c.1013A>C	NP_064611.3:p.Glu338Ala