Canonical Allele Identifier: CA394521575
Community Standard Title: NM_032444.4(SLX4):c.3190G>C (p.Gly1064Arg)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590448C>G , CM000678.2:g.3590448C>G GRCh38
NC_000016.9:g.3640449C>G , CM000678.1:g.3640449C>G GRCh37
NC_000016.8:g.3580450C>G NCBI36
NG_028123.1:g.26137G>C , LRG_503:g.26137G>C

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.3190G>C MANE Select NP_115820.2:p.Gly1064Arg
ENST00000294008.4:c.3190G>C MANE Select ENSP00000294008.3:p.Gly1064Arg
NM_032444.2:c.3190G>C , LRG_503t1:c.3190G>C NP_115820.2:p.Gly1064Arg
NM_032444.3:c.3190G>C NP_115820.2:p.Gly1064Arg
ENST00000294008.3:c.3190G>C ENSP00000294008.3:p.Gly1064Arg
XM_011522715.1:c.3190G>C XP_011521017.1:p.Gly1064Arg
XM_011522715.3:c.3190G>C XP_011521017.1:p.Gly1064Arg
XM_017023775.2:c.2368G>C XP_016879264.1:p.Gly790Arg
XM_024450471.1:c.3190G>C XP_024306239.1:p.Gly1064Arg