Canonical Allele Identifier: CA7865757
Community Standard Title: NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589605G>A , CM000678.2:g.3589605G>A GRCh38
NC_000016.9:g.3639606G>A , CM000678.1:g.3639606G>A GRCh37
NC_000016.8:g.3579607G>A NCBI36
NG_028123.1:g.26980C>T , LRG_503:g.26980C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.4033C>T MANE Select NP_115820.2:p.Arg1345Cys
ENST00000294008.4:c.4033C>T MANE Select ENSP00000294008.3:p.Arg1345Cys
NM_032444.2:c.4033C>T , LRG_503t1:c.4033C>T NP_115820.2:p.Arg1345Cys
NM_032444.3:c.4033C>T NP_115820.2:p.Arg1345Cys
ENST00000294008.3:c.4033C>T ENSP00000294008.3:p.Arg1345Cys
XM_011522715.1:c.4033C>T XP_011521017.1:p.Arg1345Cys
XM_011522715.3:c.4033C>T XP_011521017.1:p.Arg1345Cys
XM_017023775.2:c.3211C>T XP_016879264.1:p.Arg1071Cys
XM_024450471.1:c.4033C>T XP_024306239.1:p.Arg1345Cys