Canonical Allele Identifier: CA7865939
Community Standard Title: NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590304T>G , CM000678.2:g.3590304T>G GRCh38
NC_000016.9:g.3640305T>G , CM000678.1:g.3640305T>G GRCh37
NC_000016.8:g.3580306T>G NCBI36
NG_028123.1:g.26281A>C , LRG_503:g.26281A>C

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3334A>C MANE Select NP_115820.2:p.Lys1112Gln
ENST00000294008.4:c.3334A>C MANE Select ENSP00000294008.3:p.Lys1112Gln
NM_032444.2:c.3334A>C , LRG_503t1:c.3334A>C NP_115820.2:p.Lys1112Gln
NM_032444.3:c.3334A>C NP_115820.2:p.Lys1112Gln
ENST00000294008.3:c.3334A>C ENSP00000294008.3:p.Lys1112Gln
XM_011522715.1:c.3334A>C XP_011521017.1:p.Lys1112Gln
XM_011522715.3:c.3334A>C XP_011521017.1:p.Lys1112Gln
XM_017023775.2:c.2512A>C XP_016879264.1:p.Lys838Gln
XM_024450471.1:c.3334A>C XP_024306239.1:p.Lys1112Gln