Canonical Allele Identifier: CA357317247

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76112486T>A , CM000666.2:g.76112486T>A GRCh38
NC_000004.11:g.77033639T>A , CM000666.1:g.77033639T>A GRCh37
NC_000004.10:g.77252663T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000511188.2:c.1170T>A (ART3) ENSP00000422249.2:p.Ser390Arg
ENST00000695546.1:c.*1451A>T (NUP54) ENSP00000512003.1:n.*1451A>T
ENST00000700440.1:c.1038T>A (ART3) ENSP00000514989.1:p.Ser346Arg
ENST00000355810.9:c.1137T>A (ART3) MANE Select ENSP00000348064.4:p.Ser379Arg
ENST00000341029.9:c.1071T>A (ART3) ENSP00000343843.5:p.Ser357Arg
ENST00000349321.7:c.1104T>A (ART3) ENSP00000304313.5:p.Ser368Arg
ENST00000355810.8:c.1137T>A (ART3) ENSP00000348064.4:p.Ser379Arg
ENST00000395688.7:n.272T>A (ART3)
ENST00000504112.5:n.368T>A (ART3)
ENST00000506667.5:n.335T>A (ART3)
ENST00000510669.5:n.577T>A (ART3)
ENST00000510863.1:n.679T>A (ART3)
NM_001130016.2:c.1137T>A (ART3) NP_001123488.1:p.Ser379Arg
NM_001130017.2:c.1071T>A (ART3) NP_001123489.1:p.Ser357Arg
NM_001179.5:c.1104T>A (ART3) NP_001170.2:p.Ser368Arg
XM_005262997.1:c.1170T>A (ART3) XP_005263054.1:p.Ser390Arg
XM_005262999.1:c.1104T>A (ART3) XP_005263056.1:p.Ser368Arg
XM_005263003.1:c.1041T>A (ART3) XP_005263060.1:p.Ser347Arg
XM_005263004.1:c.1038T>A (ART3) XP_005263061.1:p.Ser346Arg
XM_006714218.1:c.1140T>A (ART3) XP_006714281.1:p.Ser380Arg
XM_006714220.1:c.1074T>A (ART3) XP_006714283.1:p.Ser358Arg
XM_011531971.1:c.1074T>A (ART3) XP_011530273.1:p.Ser358Arg
XM_017008210.2:c.1014T>A (ART3) XP_016863699.1:p.Ser338Arg
XM_024454055.1:c.1170T>A (ART3) XP_024309823.1:p.Ser390Arg
XM_024454056.1:c.1107T>A (ART3) XP_024309824.1:p.Ser369Arg
XM_024454057.1:c.1104T>A (ART3) XP_024309825.1:p.Ser368Arg
XM_024454058.1:c.1074T>A (ART3) XP_024309826.1:p.Ser358Arg
XM_024454059.1:c.1074T>A (ART3) XP_024309827.1:p.Ser358Arg
XM_024454060.1:c.1071T>A (ART3) XP_024309828.1:p.Ser357Arg
XM_024454061.1:c.1041T>A (ART3) XP_024309829.1:p.Ser347Arg
XM_024454062.1:c.1038T>A (ART3) XP_024309830.1:p.Ser346Arg
XM_024454063.1:c.1038T>A (ART3) XP_024309831.1:p.Ser346Arg
XR_002959732.1:n.2493T>A (ART3)
XR_002959733.1:n.2934T>A (ART3)
NM_001130016.3:c.1137T>A (ART3) MANE Select NP_001123488.1:p.Ser379Arg
NM_001130017.3:c.1071T>A (ART3) NP_001123489.1:p.Ser357Arg
NM_001179.6:c.1104T>A (ART3) NP_001170.2:p.Ser368Arg
NM_001377173.1:c.1170T>A (ART3) NP_001364102.1:p.Ser390Arg
NM_001377174.1:c.1104T>A (ART3) NP_001364103.1:p.Ser368Arg
NM_001377175.1:c.1071T>A (ART3) NP_001364104.1:p.Ser357Arg
NM_001377176.1:c.1041T>A (ART3) NP_001364105.1:p.Ser347Arg
NM_001377177.1:c.1008T>A (ART3) NP_001364106.1:p.Ser336Arg
NM_001377178.1:c.1008T>A (ART3) NP_001364107.1:p.Ser336Arg
NM_001377179.1:c.1008T>A (ART3) NP_001364108.1:p.Ser336Arg
NM_001377180.1:c.975T>A (ART3) NP_001364109.1:p.Ser325Arg
NM_001377181.1:c.948T>A (ART3) NP_001364110.1:p.Ser316Arg
NM_001377182.1:c.948T>A (ART3) NP_001364111.1:p.Ser316Arg
NM_001377183.1:c.915T>A (ART3) NP_001364112.1:p.Ser305Arg
NM_001377184.1:c.915T>A (ART3) NP_001364113.1:p.Ser305Arg
NM_001377185.1:c.882T>A (ART3) NP_001364114.1:p.Ser294Arg