Canonical Allele Identifier: CA493269169
Community Standard Title: NM_032444.4(SLX4):c.1569T>C (p.Pro523=)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3597493A>G , CM000678.2:g.3597493A>G GRCh38
NC_000016.9:g.3647494A>G , CM000678.1:g.3647494A>G GRCh37
NC_000016.8:g.3587495A>G NCBI36
NG_028123.1:g.19092T>C , LRG_503:g.19092T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.1569T>C MANE Select NP_115820.2:p.Pro523=
ENST00000294008.4:c.1569T>C MANE Select ENSP00000294008.3:p.Pro523=
NM_032444.2:c.1569T>C , LRG_503t1:c.1569T>C NP_115820.2:p.Pro523=
NM_032444.3:c.1569T>C NP_115820.2:p.Pro523=
ENST00000294008.3:c.1569T>C ENSP00000294008.3:p.Pro523=
ENST00000466154.5:n.2790T>C
XM_011522715.1:c.1569T>C XP_011521017.1:p.Pro523=
XM_011522715.3:c.1569T>C XP_011521017.1:p.Pro523=
XM_017023775.2:c.747T>C XP_016879264.1:p.Pro249=
XM_024450471.1:c.1569T>C XP_024306239.1:p.Pro523=