Canonical Allele Identifier: CA7865613
Community Standard Title: NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589115G>T , CM000678.2:g.3589115G>T GRCh38
NC_000016.9:g.3639116G>T , CM000678.1:g.3639116G>T GRCh37
NC_000016.8:g.3579117G>T NCBI36
NG_028123.1:g.27470C>A , LRG_503:g.27470C>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.4523C>A MANE Select NP_115820.2:p.Ser1508Ter
ENST00000294008.4:c.4523C>A MANE Select ENSP00000294008.3:p.Ser1508Ter
NM_032444.2:c.4523C>A , LRG_503t1:c.4523C>A NP_115820.2:p.Ser1508Ter
NM_032444.3:c.4523C>A NP_115820.2:p.Ser1508Ter
ENST00000294008.3:c.4523C>A ENSP00000294008.3:p.Ser1508Ter
XM_011522715.1:c.4523C>A XP_011521017.1:p.Ser1508Ter
XM_011522715.3:c.4523C>A XP_011521017.1:p.Ser1508Ter
XM_017023775.2:c.3701C>A XP_016879264.1:p.Ser1234Ter
XM_024450471.1:c.4523C>A XP_024306239.1:p.Ser1508Ter