Canonical Allele Identifier: CA394520303
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590279T>A , CM000678.2:g.3590279T>A GRCh38
NC_000016.9:g.3640280T>A , CM000678.1:g.3640280T>A GRCh37
NC_000016.8:g.3580281T>A NCBI36
NG_028123.1:g.26306A>T , LRG_503:g.26306A>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3359A>T MANE Select NP_115820.2:p.Lys1120Ile
ENST00000294008.4:c.3359A>T MANE Select ENSP00000294008.3:p.Lys1120Ile
NM_032444.2:c.3359A>T , LRG_503t1:c.3359A>T NP_115820.2:p.Lys1120Ile
NM_032444.3:c.3359A>T NP_115820.2:p.Lys1120Ile
ENST00000294008.3:c.3359A>T ENSP00000294008.3:p.Lys1120Ile
XM_011522715.1:c.3359A>T XP_011521017.1:p.Lys1120Ile
XM_011522715.3:c.3359A>T XP_011521017.1:p.Lys1120Ile
XM_017023775.2:c.2537A>T XP_016879264.1:p.Lys846Ile
XM_024450471.1:c.3359A>T XP_024306239.1:p.Lys1120Ile