Canonical Allele Identifier: CA7865330
Community Standard Title: NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3582475C>T , CM000678.2:g.3582475C>T GRCh38
NC_000016.9:g.3632476C>T , CM000678.1:g.3632476C>T GRCh37
NC_000016.8:g.3572477C>T NCBI36
NG_028123.1:g.34110G>A , LRG_503:g.34110G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.5372G>A MANE Select NP_115820.2:p.Arg1791His
ENST00000294008.4:c.5372G>A MANE Select ENSP00000294008.3:p.Arg1791His
NM_032444.2:c.5372G>A , LRG_503t1:c.5372G>A NP_115820.2:p.Arg1791His
NM_032444.3:c.5372G>A NP_115820.2:p.Arg1791His
ENST00000294008.3:c.5372G>A ENSP00000294008.3:p.Arg1791His
XM_011522715.1:c.5369G>A XP_011521017.1:p.Arg1790His
XM_011522715.3:c.5369G>A XP_011521017.1:p.Arg1790His
XM_017023775.2:c.4550G>A XP_016879264.1:p.Arg1517His
XM_024450471.1:c.5372G>A XP_024306239.1:p.Arg1791His