Canonical Allele Identifier: CA394529062
Community Standard Title: NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3597621G>A , CM000678.2:g.3597621G>A GRCh38
NC_000016.9:g.3647622G>A , CM000678.1:g.3647622G>A GRCh37
NC_000016.8:g.3587623G>A NCBI36
NG_028123.1:g.18964C>T , LRG_503:g.18964C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.1441C>T MANE Select NP_115820.2:p.Arg481Ter
ENST00000294008.4:c.1441C>T MANE Select ENSP00000294008.3:p.Arg481Ter
NM_032444.2:c.1441C>T , LRG_503t1:c.1441C>T NP_115820.2:p.Arg481Ter
NM_032444.3:c.1441C>T NP_115820.2:p.Arg481Ter
ENST00000294008.3:c.1441C>T ENSP00000294008.3:p.Arg481Ter
ENST00000466154.5:n.2662C>T
XM_011522715.1:c.1441C>T XP_011521017.1:p.Arg481Ter
XM_011522715.3:c.1441C>T XP_011521017.1:p.Arg481Ter
XM_017023775.2:c.619C>T XP_016879264.1:p.Arg207Ter
XM_024450471.1:c.1441C>T XP_024306239.1:p.Arg481Ter