Canonical Allele Identifier: CA14291885
Community Standard Title: NM_032444.4(SLX4):c.2013+183A>G
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3595422T>C , CM000678.2:g.3595422T>C GRCh38
NC_000016.9:g.3645423T>C , CM000678.1:g.3645423T>C GRCh37
NC_000016.8:g.3585424T>C NCBI36
NG_028123.1:g.21163A>G , LRG_503:g.21163A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.2013+183A>G MANE Select NP_115820.2:n.2013+183A>G
ENST00000294008.4:c.2013+183A>G MANE Select ENSP00000294008.3:n.2013+183A>G
NM_032444.2:c.2013+183A>G , LRG_503t1:c.2013+183A>G NP_115820.2:n.2013+183A>G
NM_032444.3:c.2013+183A>G NP_115820.2:n.2013+183A>G
ENST00000294008.3:c.2013+183A>G ENSP00000294008.3:n.2013+183A>G
XM_011522715.1:c.2013+183A>G XP_011521017.1:n.2013+183A>G
XM_011522715.3:c.2013+183A>G XP_011521017.1:n.2013+183A>G
XM_017023775.2:c.1191+183A>G XP_016879264.1:n.1191+183A>G
XM_024450471.1:c.2013+183A>G XP_024306239.1:n.2013+183A>G