Canonical Allele Identifier: CA7865536
Community Standard Title: NM_032444.4(SLX4):c.4739+2T>C
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3584767A>G , CM000678.2:g.3584767A>G GRCh38
NC_000016.9:g.3634768A>G , CM000678.1:g.3634768A>G GRCh37
NC_000016.8:g.3574769A>G NCBI36
NG_028123.1:g.31818T>C , LRG_503:g.31818T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.4739+2T>C MANE Select NP_115820.2:n.4739+2T>C
ENST00000294008.4:c.4739+2T>C MANE Select ENSP00000294008.3:n.4739+2T>C
NM_032444.2:c.4739+2T>C , LRG_503t1:c.4739+2T>C NP_115820.2:n.4739+2T>C
NM_032444.3:c.4739+2T>C NP_115820.2:n.4739+2T>C
ENST00000294008.3:c.4739+2T>C ENSP00000294008.3:n.4739+2T>C
XM_011522715.1:c.4736+2T>C XP_011521017.1:n.4736+2T>C
XM_011522715.3:c.4736+2T>C XP_011521017.1:n.4736+2T>C
XM_017023775.2:c.3917+2T>C XP_016879264.1:n.3917+2T>C
XM_024450471.1:c.4739+2T>C XP_024306239.1:n.4739+2T>C