Canonical Allele Identifier: CA357398048

Gene: PRDM8

Linked Data

• dbSNP Id: rs1441383663
• gnomAD v2: 4-81123685-G-A
• gnomAD v4: 4-80202531-G-A
• MyVariant Identifiers: chr4:g.81123685G>A (hg19) ; chr4:g.80202531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202531G>A , CM000666.2:g.80202531G>A	GRCh38
NC_000004.11:g.81123685G>A , CM000666.1:g.81123685G>A	GRCh37
NC_000004.10:g.81342709G>A	NCBI36
NG_046725.1:g.22262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415738.3:c.1069G>A MANE Select	ENSP00000406998.2:p.Ala357Thr
ENST00000339711.8:c.1069G>A	ENSP00000339764.4:p.Ala357Thr
ENST00000415738.2:c.1069G>A	ENSP00000406998.2:p.Ala357Thr
ENST00000504452.5:c.1069G>A	ENSP00000423985.1:p.Ala357Thr
ENST00000515013.5:c.1069G>A	ENSP00000425149.1:p.Ala357Thr
NM_001099403.1:c.1069G>A	NP_001092873.1:p.Ala357Thr
NM_020226.3:c.1069G>A	NP_064611.3:p.Ala357Thr
XM_005263144.2:c.1072G>A	XP_005263201.1:p.Ala358Thr
XM_005263145.2:c.1072G>A	XP_005263202.1:p.Ala358Thr
XM_005263146.3:c.1069G>A	XP_005263203.1:p.Ala357Thr
XM_011532133.1:c.1912G>A	XP_011530435.1:p.Ala638Thr
XM_011532134.1:c.1909G>A	XP_011530436.1:p.Ala637Thr
XM_011532135.1:c.1771G>A	XP_011530437.1:p.Ala591Thr
XM_011532136.1:c.1624G>A	XP_011530438.1:p.Ala542Thr
XM_011532137.1:c.1624G>A	XP_011530439.1:p.Ala542Thr
XM_011532138.1:c.1624G>A	XP_011530440.1:p.Ala542Thr
XM_011532139.1:c.1624G>A	XP_011530441.1:p.Ala542Thr
XM_011532140.1:c.1624G>A	XP_011530442.1:p.Ala542Thr
XM_011532141.1:c.1486G>A	XP_011530443.1:p.Ala496Thr
XM_011532142.1:c.1465G>A	XP_011530444.1:p.Ala489Thr
XM_005263146.4:c.1069G>A	XP_005263203.1:p.Ala357Thr
XM_011532133.2:c.1912G>A	XP_011530435.1:p.Ala638Thr
XM_011532135.2:c.1771G>A	XP_011530437.1:p.Ala591Thr
XM_011532140.2:c.1624G>A	XP_011530442.1:p.Ala542Thr
XM_011532141.3:c.1486G>A	XP_011530443.1:p.Ala496Thr
XM_017008468.1:c.1621G>A	XP_016863957.1:p.Ala541Thr
XM_017008469.1:c.1708G>A	XP_016863958.1:p.Ala570Thr
XM_017008470.1:c.1624G>A	XP_016863959.1:p.Ala542Thr
NM_001099403.2:c.1069G>A MANE Select	NP_001092873.1:p.Ala357Thr
NM_020226.4:c.1069G>A	NP_064611.3:p.Ala357Thr