Canonical Allele Identifier: CA3061311
Community Standard Title: NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120816835G>A , CM000666.2:g.120816835G>A GRCh38
NC_000004.11:g.121737990G>A , CM000666.1:g.121737990G>A GRCh37
NC_000004.10:g.121957440G>A NCBI36
NG_031862.2:g.111024C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.740C>T MANE Select NP_061169.2:p.Ser247Leu
ENST00000264808.8:c.740C>T MANE Select ENSP00000264808.3:p.Ser247Leu
NM_001300823.1:c.651-261C>T NP_001287752.1:n.651-261C>T
NM_001300823.2:c.651-261C>T NP_001287752.1:n.651-261C>T
NM_001300824.1:c.651-261C>T NP_001287753.1:n.651-261C>T
NM_001300824.2:c.651-261C>T NP_001287753.1:n.651-261C>T
NM_001379104.1:c.740C>T NP_001366033.1:p.Ser247Leu
NM_001379106.1:c.651-261C>T NP_001366035.1:n.651-261C>T
NM_018699.3:c.740C>T NP_061169.2:p.Ser247Leu
ENST00000264808.7:c.740C>T ENSP00000264808.3:p.Ser247Leu
ENST00000428209.6:c.651-261C>T ENSP00000404832.2:n.651-261C>T
ENST00000502409.1:c.271C>T
ENST00000505484.5:n.813C>T
ENST00000512845.5:n.738-261C>T
ENST00000515109.5:c.651-261C>T ENSP00000422309.1:n.651-261C>T
XM_005262708.2:c.740C>T XP_005262765.1:p.Ser247Leu
XM_005262708.3:c.740C>T XP_005262765.1:p.Ser247Leu
XM_011531562.1:c.740C>T XP_011529864.1:p.Ser247Leu
XM_011531562.2:c.740C>T XP_011529864.1:p.Ser247Leu
XM_011531563.1:c.651-261C>T XP_011529865.1:n.651-261C>T
XM_011531563.2:c.651-261C>T XP_011529865.1:n.651-261C>T
XM_011531564.1:c.740C>T XP_011529866.1:p.Ser247Leu
XM_011531564.2:c.740C>T XP_011529866.1:p.Ser247Leu
XM_011531565.1:c.740C>T XP_011529867.1:p.Ser247Leu
XM_011531565.2:c.740C>T XP_011529867.1:p.Ser247Leu
XM_011531566.1:c.740C>T XP_011529868.1:p.Ser247Leu
XM_011531566.3:c.740C>T XP_011529868.1:p.Ser247Leu
XM_011531567.1:c.740C>T XP_011529869.1:p.Ser247Leu
XM_011531567.2:c.740C>T XP_011529869.1:p.Ser247Leu
XM_011531568.1:c.740C>T XP_011529870.1:p.Ser247Leu
XM_011531568.2:c.740C>T XP_011529870.1:p.Ser247Leu
XM_011531569.1:c.740C>T XP_011529871.1:p.Ser247Leu
XM_011531569.3:c.740C>T XP_011529871.1:p.Ser247Leu
XM_011531570.1:c.151+1518C>T XP_011529872.1:n.151+1518C>T
XM_011531570.3:c.151+1518C>T XP_011529872.1:n.151+1518C>T
XM_017007668.2:c.662C>T XP_016863157.1:p.Ser221Leu
XM_017007669.1:c.740C>T XP_016863158.1:p.Ser247Leu
XM_017007670.1:c.740C>T XP_016863159.1:p.Ser247Leu
XM_024453879.1:c.151+1518C>T XP_024309647.1:n.151+1518C>T
XR_938677.1:n.981C>T
XR_938677.3:n.981C>T
XR_938678.1:n.981C>T
XR_938679.1:n.981C>T
XR_938680.1:n.981C>T
XR_938680.2:n.981C>T