Canonical Allele Identifier: CA394547343
Community Standard Title: NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608582C>T , CM000678.2:g.3608582C>T GRCh38
NC_000016.9:g.3658583C>T , CM000678.1:g.3658583C>T GRCh37
NC_000016.8:g.3598584C>T NCBI36
NG_028123.1:g.8003G>A , LRG_503:g.8003G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.383G>A MANE Select NP_115820.2:p.Trp128Ter
ENST00000294008.4:c.383G>A MANE Select ENSP00000294008.3:p.Trp128Ter
NM_032444.2:c.383G>A , LRG_503t1:c.383G>A NP_115820.2:p.Trp128Ter
NM_032444.3:c.383G>A NP_115820.2:p.Trp128Ter
ENST00000294008.3:c.383G>A ENSP00000294008.3:p.Trp128Ter
ENST00000466154.5:n.678G>A
ENST00000486524.1:n.1011G>A
ENST00000697859.1:n.1005G>A
XM_011522715.1:c.383G>A XP_011521017.1:p.Trp128Ter
XM_011522715.3:c.383G>A XP_011521017.1:p.Trp128Ter
XM_024450471.1:c.383G>A XP_024306239.1:p.Trp128Ter