Canonical Allele Identifier: CA7865440
Community Standard Title: NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3583210C>G , CM000678.2:g.3583210C>G GRCh38
NC_000016.9:g.3633211C>G , CM000678.1:g.3633211C>G GRCh37
NC_000016.8:g.3573212C>G NCBI36
NG_028123.1:g.33375G>C , LRG_503:g.33375G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.5040G>C MANE Select NP_115820.2:p.Arg1680Ser
ENST00000294008.4:c.5040G>C MANE Select ENSP00000294008.3:p.Arg1680Ser
NM_032444.2:c.5040G>C , LRG_503t1:c.5040G>C NP_115820.2:p.Arg1680Ser
NM_032444.3:c.5040G>C NP_115820.2:p.Arg1680Ser
ENST00000294008.3:c.5040G>C ENSP00000294008.3:p.Arg1680Ser
XM_011522715.1:c.5037G>C XP_011521017.1:p.Arg1679Ser
XM_011522715.3:c.5037G>C XP_011521017.1:p.Arg1679Ser
XM_017023775.2:c.4218G>C XP_016879264.1:p.Arg1406Ser
XM_024450471.1:c.5040G>C XP_024306239.1:p.Arg1680Ser