Canonical Allele Identifier: CA394532393
Community Standard Title: NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3602230C>A , CM000678.2:g.3602230C>A GRCh38
NC_000016.9:g.3652231C>A , CM000678.1:g.3652231C>A GRCh37
NC_000016.8:g.3592232C>A NCBI36
NG_028123.1:g.14355G>T , LRG_503:g.14355G>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.838G>T MANE Select NP_115820.2:p.Gly280Ter
ENST00000294008.4:c.838G>T MANE Select ENSP00000294008.3:p.Gly280Ter
NM_032444.2:c.838G>T , LRG_503t1:c.838G>T NP_115820.2:p.Gly280Ter
NM_032444.3:c.838G>T NP_115820.2:p.Gly280Ter
ENST00000294008.3:c.838G>T ENSP00000294008.3:p.Gly280Ter
ENST00000466154.5:n.1133G>T
ENST00000486524.1:n.1466G>T
ENST00000697858.1:n.179G>T
XM_011522715.1:c.838G>T XP_011521017.1:p.Gly280Ter
XM_011522715.3:c.838G>T XP_011521017.1:p.Gly280Ter
XM_024450471.1:c.838G>T XP_024306239.1:p.Gly280Ter