Canonical Allele Identifier: CA7866918
Community Standard Title: NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3608718C>T , CM000678.2:g.3608718C>T GRCh38
NC_000016.9:g.3658719C>T , CM000678.1:g.3658719C>T GRCh37
NC_000016.8:g.3598720C>T NCBI36
NG_028123.1:g.7867G>A , LRG_503:g.7867G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.247G>A MANE Select NP_115820.2:p.Gly83Ser
ENST00000294008.4:c.247G>A MANE Select ENSP00000294008.3:p.Gly83Ser
NM_032444.2:c.247G>A , LRG_503t1:c.247G>A NP_115820.2:p.Gly83Ser
NM_032444.3:c.247G>A NP_115820.2:p.Gly83Ser
ENST00000294008.3:c.247G>A ENSP00000294008.3:p.Gly83Ser
ENST00000466154.5:n.542G>A
ENST00000486524.1:n.875G>A
ENST00000697859.1:n.869G>A
XM_011522715.1:c.247G>A XP_011521017.1:p.Gly83Ser
XM_011522715.3:c.247G>A XP_011521017.1:p.Gly83Ser
XM_024450471.1:c.247G>A XP_024306239.1:p.Gly83Ser