Canonical Allele Identifier: CA394518708
Community Standard Title: NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589683G>A , CM000678.2:g.3589683G>A GRCh38
NC_000016.9:g.3639684G>A , CM000678.1:g.3639684G>A GRCh37
NC_000016.8:g.3579685G>A NCBI36
NG_028123.1:g.26902C>T , LRG_503:g.26902C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3955C>T MANE Select NP_115820.2:p.Gln1319Ter
ENST00000294008.4:c.3955C>T MANE Select ENSP00000294008.3:p.Gln1319Ter
NM_032444.2:c.3955C>T , LRG_503t1:c.3955C>T NP_115820.2:p.Gln1319Ter
NM_032444.3:c.3955C>T NP_115820.2:p.Gln1319Ter
ENST00000294008.3:c.3955C>T ENSP00000294008.3:p.Gln1319Ter
XM_011522715.1:c.3955C>T XP_011521017.1:p.Gln1319Ter
XM_011522715.3:c.3955C>T XP_011521017.1:p.Gln1319Ter
XM_017023775.2:c.3133C>T XP_016879264.1:p.Gln1045Ter
XM_024450471.1:c.3955C>T XP_024306239.1:p.Gln1319Ter