Canonical Allele Identifier: CA394519535
Community Standard Title: NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589914C>A , CM000678.2:g.3589914C>A GRCh38
NC_000016.9:g.3639915C>A , CM000678.1:g.3639915C>A GRCh37
NC_000016.8:g.3579916C>A NCBI36
NG_028123.1:g.26671G>T , LRG_503:g.26671G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3724G>T MANE Select NP_115820.2:p.Glu1242Ter
ENST00000294008.4:c.3724G>T MANE Select ENSP00000294008.3:p.Glu1242Ter
NM_032444.2:c.3724G>T , LRG_503t1:c.3724G>T NP_115820.2:p.Glu1242Ter
NM_032444.3:c.3724G>T NP_115820.2:p.Glu1242Ter
ENST00000294008.3:c.3724G>T ENSP00000294008.3:p.Glu1242Ter
XM_011522715.1:c.3724G>T XP_011521017.1:p.Glu1242Ter
XM_011522715.3:c.3724G>T XP_011521017.1:p.Glu1242Ter
XM_017023775.2:c.2902G>T XP_016879264.1:p.Glu968Ter
XM_024450471.1:c.3724G>T XP_024306239.1:p.Glu1242Ter