Canonical Allele Identifier: CA3061080

Gene: PRDM5

Linked Data

• ClinVar Variation Id: 347436
• ClinVar RCV Id: RCV000407888 ; RCV000442095 ; RCV000726848 ; RCV002278567 ; RCV002379238
• dbSNP Id: rs185134294
• ExAC: 4:121702463 G / A
• gnomAD v2: 4-121702463-G-A
• gnomAD v3: 4-120781308-G-A
• gnomAD v4: 4-120781308-G-A
• MyVariant Identifiers: chr4:g.121702463G>A (hg19) ; chr4:g.120781308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.120781308G>A , CM000666.2:g.120781308G>A	GRCh38
NC_000004.11:g.121702463G>A , CM000666.1:g.121702463G>A	GRCh37
NC_000004.10:g.121921913G>A	NCBI36
NG_031862.2:g.146551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264808.8:c.1283-5C>T MANE Select	ENSP00000264808.3:n.1283-5C>T
ENST00000264808.7:c.1283-5C>T	ENSP00000264808.3:n.1283-5C>T
ENST00000428209.6:c.1190-5C>T	ENSP00000404832.2:n.1190-5C>T
ENST00000505484.5:n.1613-5C>T
ENST00000515109.5:c.1190-5C>T	ENSP00000422309.1:n.1190-5C>T
NM_001300823.1:c.1190-5C>T	NP_001287752.1:n.1190-5C>T
NM_001300824.1:c.1190-5C>T	NP_001287753.1:n.1190-5C>T
NM_018699.3:c.1283-5C>T	NP_061169.2:n.1283-5C>T
XM_011531562.1:c.1316-5C>T	XP_011529864.1:n.1316-5C>T
XM_011531563.1:c.1223-5C>T	XP_011529865.1:n.1223-5C>T
XM_011531564.1:c.1316-5C>T	XP_011529866.1:n.1316-5C>T
XM_011531565.1:c.1316-5C>T	XP_011529867.1:n.1316-5C>T
XM_011531566.1:c.1316-5C>T	XP_011529868.1:n.1316-5C>T
XM_011531567.1:c.1316-5C>T	XP_011529869.1:n.1316-5C>T
XM_011531568.1:c.1316-5C>T	XP_011529870.1:n.1316-5C>T
XM_011531569.1:c.1316-5C>T	XP_011529871.1:n.1316-5C>T
XM_011531570.1:c.602-5C>T	XP_011529872.1:n.602-5C>T
XR_938677.1:n.1557-5C>T
XR_938678.1:n.1557-5C>T
XR_938679.1:n.1557-5C>T
XR_938680.1:n.1557-5C>T
XM_011531562.2:c.1316-5C>T	XP_011529864.1:n.1316-5C>T
XM_011531563.2:c.1223-5C>T	XP_011529865.1:n.1223-5C>T
XM_011531564.2:c.1316-5C>T	XP_011529866.1:n.1316-5C>T
XM_011531565.2:c.1316-5C>T	XP_011529867.1:n.1316-5C>T
XM_011531566.3:c.1316-5C>T	XP_011529868.1:n.1316-5C>T
XM_011531567.2:c.1316-5C>T	XP_011529869.1:n.1316-5C>T
XM_011531568.2:c.1316-5C>T	XP_011529870.1:n.1316-5C>T
XM_011531569.3:c.1316-5C>T	XP_011529871.1:n.1316-5C>T
XM_011531570.3:c.602-5C>T	XP_011529872.1:n.602-5C>T
XM_017007668.2:c.1238-5C>T	XP_016863157.1:n.1238-5C>T
XM_017007669.1:c.1283-5C>T	XP_016863158.1:n.1283-5C>T
XM_017007670.1:c.1283-5C>T	XP_016863159.1:n.1283-5C>T
XM_017007671.1:c.341-5C>T	XP_016863160.1:n.341-5C>T
XM_024453879.1:c.569-5C>T	XP_024309647.1:n.569-5C>T
XR_938677.3:n.1557-5C>T
XR_938680.2:n.1557-5C>T
NM_001300823.2:c.1190-5C>T	NP_001287752.1:n.1190-5C>T
NM_001300824.2:c.1190-5C>T	NP_001287753.1:n.1190-5C>T
NM_001379104.1:c.1316-5C>T	NP_001366033.1:n.1316-5C>T
NM_001379106.1:c.1190-5C>T	NP_001366035.1:n.1190-5C>T
NM_018699.4:c.1283-5C>T MANE Select	NP_061169.2:n.1283-5C>T