Canonical Allele Identifier: CA394528854
Community Standard Title: NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3597522C>A , CM000678.2:g.3597522C>A GRCh38
NC_000016.9:g.3647523C>A , CM000678.1:g.3647523C>A GRCh37
NC_000016.8:g.3587524C>A NCBI36
NG_028123.1:g.19063G>T , LRG_503:g.19063G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.1540G>T MANE Select NP_115820.2:p.Glu514Ter
ENST00000294008.4:c.1540G>T MANE Select ENSP00000294008.3:p.Glu514Ter
NM_032444.2:c.1540G>T , LRG_503t1:c.1540G>T NP_115820.2:p.Glu514Ter
NM_032444.3:c.1540G>T NP_115820.2:p.Glu514Ter
ENST00000294008.3:c.1540G>T ENSP00000294008.3:p.Glu514Ter
ENST00000466154.5:n.2761G>T
XM_011522715.1:c.1540G>T XP_011521017.1:p.Glu514Ter
XM_011522715.3:c.1540G>T XP_011521017.1:p.Glu514Ter
XM_017023775.2:c.718G>T XP_016879264.1:p.Glu240Ter
XM_024450471.1:c.1540G>T XP_024306239.1:p.Glu514Ter