Canonical Allele Identifier: CA394529223
Community Standard Title: NM_032444.4(SLX4):c.1367-2A>G
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3597697T>C , CM000678.2:g.3597697T>C GRCh38
NC_000016.9:g.3647698T>C , CM000678.1:g.3647698T>C GRCh37
NC_000016.8:g.3587699T>C NCBI36
NG_028123.1:g.18888A>G , LRG_503:g.18888A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.1367-2A>G MANE Select NP_115820.2:n.1367-2A>G
ENST00000294008.4:c.1367-2A>G MANE Select ENSP00000294008.3:n.1367-2A>G
NM_032444.2:c.1367-2A>G , LRG_503t1:c.1367-2A>G NP_115820.2:n.1367-2A>G
NM_032444.3:c.1367-2A>G NP_115820.2:n.1367-2A>G
ENST00000294008.3:c.1367-2A>G ENSP00000294008.3:n.1367-2A>G
ENST00000466154.5:n.2588-2A>G
XM_011522715.1:c.1367-2A>G XP_011521017.1:n.1367-2A>G
XM_011522715.3:c.1367-2A>G XP_011521017.1:n.1367-2A>G
XM_017023775.2:c.545-2A>G XP_016879264.1:n.545-2A>G
XM_024450471.1:c.1367-2A>G XP_024306239.1:n.1367-2A>G