Canonical Allele Identifier: CA24678718
Community Standard Title: NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
Gene: NEXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77926758C>T , CM000663.2:g.77926758C>T GRCh38
NC_000001.10:g.78392443C>T , CM000663.1:g.78392443C>T GRCh37
NC_000001.9:g.78165031C>T NCBI36
NG_016625.1:g.43244C>T , LRG_442:g.43244C>T

Transcript Alleles

HGVS Amino-acid Change
NM_144573.4:c.730C>T MANE Select NP_653174.3:p.Pro244Ser
ENST00000334785.12:c.730C>T MANE Select ENSP00000333938.7:p.Pro244Ser
NM_001172309.1:c.538C>T NP_001165780.1:p.Pro180Ser
NM_001172309.2:c.538C>T NP_001165780.1:p.Pro180Ser
NM_144573.3:c.730C>T , LRG_442t1:c.730C>T NP_653174.3:p.Pro244Ser
ENST00000330010.12:c.538C>T ENSP00000327363.8:p.Pro180Ser
ENST00000334785.11:c.730C>T ENSP00000333938.7:p.Pro244Ser
ENST00000342754.5:c.429C>T
ENST00000401035.7:c.538C>T ENSP00000383814.3:p.Pro180Ser
ENST00000440324.5:c.688C>T ENSP00000411902.1:p.Pro230Ser
ENST00000464998.1:n.190C>T
XM_005271322.2:c.730C>T XP_005271379.1:p.Pro244Ser
XM_005271322.4:c.730C>T XP_005271379.1:p.Pro244Ser
XM_005271323.2:c.688C>T XP_005271380.1:p.Pro230Ser
XM_005271323.4:c.688C>T XP_005271380.1:p.Pro230Ser
XM_005271324.3:c.538C>T XP_005271381.1:p.Pro180Ser
XM_005271324.5:c.538C>T XP_005271381.1:p.Pro180Ser
XM_005271325.2:c.730C>T XP_005271382.1:p.Pro244Ser
XM_005271325.4:c.730C>T XP_005271382.1:p.Pro244Ser
XM_005271326.2:c.496C>T XP_005271383.1:p.Pro166Ser
XM_005271326.4:c.496C>T XP_005271383.1:p.Pro166Ser
XM_005271327.2:c.448-2558C>T XP_005271384.1:n.448-2558C>T
XM_005271327.4:c.448-2558C>T XP_005271384.1:n.448-2558C>T