Canonical Allele Identifier: CA3060982

Gene: PRDM5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.120710404A>G , CM000666.2:g.120710404A>G	GRCh38
NC_000004.11:g.121631559A>G , CM000666.1:g.121631559A>G	GRCh37
NC_000004.10:g.121851009A>G	NCBI36
NG_031862.2:g.217455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264808.8:c.1633T>C MANE Select	ENSP00000264808.3:p.Tyr545His
ENST00000264808.7:c.1633T>C	ENSP00000264808.3:p.Tyr545His
ENST00000428209.6:c.1540T>C	ENSP00000404832.2:p.Tyr514His
ENST00000505484.5:n.2136T>C
ENST00000506065.1:n.483T>C
ENST00000513741.1:n.8T>C
ENST00000515109.5:c.1454T>C	ENSP00000422309.1:p.Val485Ala
NM_001300823.1:c.1540T>C	NP_001287752.1:p.Tyr514His
NM_001300824.1:c.1454T>C	NP_001287753.1:p.Val485Ala
NM_018699.3:c.1633T>C	NP_061169.2:p.Tyr545His
XM_011531562.1:c.1666T>C	XP_011529864.1:p.Tyr556His
XM_011531563.1:c.1573T>C	XP_011529865.1:p.Tyr525His
XM_011531564.1:c.1657-15129T>C	XP_011529866.1:n.1657-15129T>C
XM_011531565.1:c.1666T>C	XP_011529867.1:p.Tyr556His
XM_011531566.1:c.1666T>C	XP_011529868.1:p.Tyr556His
XM_011531567.1:c.1580T>C	XP_011529869.1:p.Val527Ala
XM_011531568.1:c.1580T>C	XP_011529870.1:p.Val527Ala
XM_011531569.1:c.1580T>C	XP_011529871.1:p.Val527Ala
XM_011531570.1:c.952T>C	XP_011529872.1:p.Tyr318His
XR_938677.1:n.2080T>C
XM_011531562.2:c.1666T>C	XP_011529864.1:p.Tyr556His
XM_011531563.2:c.1573T>C	XP_011529865.1:p.Tyr525His
XM_011531564.2:c.1657-15129T>C	XP_011529866.1:n.1657-15129T>C
XM_011531565.2:c.1666T>C	XP_011529867.1:p.Tyr556His
XM_011531566.3:c.1666T>C	XP_011529868.1:p.Tyr556His
XM_011531567.2:c.1580T>C	XP_011529869.1:p.Val527Ala
XM_011531568.2:c.1580T>C	XP_011529870.1:p.Val527Ala
XM_011531569.3:c.1580T>C	XP_011529871.1:p.Val527Ala
XM_011531570.3:c.952T>C	XP_011529872.1:p.Tyr318His
XM_017007668.2:c.1588T>C	XP_016863157.1:p.Tyr530His
XM_017007669.1:c.1547T>C	XP_016863158.1:p.Val516Ala
XM_017007670.1:c.1547T>C	XP_016863159.1:p.Val516Ala
XM_017007671.1:c.691T>C	XP_016863160.1:p.Tyr231His
XM_024453879.1:c.919T>C	XP_024309647.1:p.Tyr307His
XR_938677.3:n.2080T>C
NM_001300823.2:c.1540T>C	NP_001287752.1:p.Tyr514His
NM_001300824.2:c.1454T>C	NP_001287753.1:p.Val485Ala
NM_001379104.1:c.1666T>C	NP_001366033.1:p.Tyr556His
NM_001379106.1:c.1531-15129T>C	NP_001366035.1:n.1531-15129T>C
NM_018699.4:c.1633T>C MANE Select	NP_061169.2:p.Tyr545His