Canonical Allele Identifier: CA394513916
Community Standard Title: NM_032444.4(SLX4):c.5231A>G (p.Gln1744Arg)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3582616T>C , CM000678.2:g.3582616T>C GRCh38
NC_000016.9:g.3632617T>C , CM000678.1:g.3632617T>C GRCh37
NC_000016.8:g.3572618T>C NCBI36
NG_028123.1:g.33969A>G , LRG_503:g.33969A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.5231A>G MANE Select NP_115820.2:p.Gln1744Arg
ENST00000294008.4:c.5231A>G MANE Select ENSP00000294008.3:p.Gln1744Arg
NM_032444.2:c.5231A>G , LRG_503t1:c.5231A>G NP_115820.2:p.Gln1744Arg
NM_032444.3:c.5231A>G NP_115820.2:p.Gln1744Arg
ENST00000294008.3:c.5231A>G ENSP00000294008.3:p.Gln1744Arg
XM_011522715.1:c.5228A>G XP_011521017.1:p.Gln1743Arg
XM_011522715.3:c.5228A>G XP_011521017.1:p.Gln1743Arg
XM_017023775.2:c.4409A>G XP_016879264.1:p.Gln1470Arg
XM_024450471.1:c.5231A>G XP_024306239.1:p.Gln1744Arg