Canonical Allele Identifier: CA7866082
Community Standard Title: NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3590889C>T , CM000678.2:g.3590889C>T GRCh38
NC_000016.9:g.3640890C>T , CM000678.1:g.3640890C>T GRCh37
NC_000016.8:g.3580891C>T NCBI36
NG_028123.1:g.25696G>A , LRG_503:g.25696G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.2749G>A MANE Select NP_115820.2:p.Ala917Thr
ENST00000294008.4:c.2749G>A MANE Select ENSP00000294008.3:p.Ala917Thr
NM_032444.2:c.2749G>A , LRG_503t1:c.2749G>A NP_115820.2:p.Ala917Thr
NM_032444.3:c.2749G>A NP_115820.2:p.Ala917Thr
ENST00000294008.3:c.2749G>A ENSP00000294008.3:p.Ala917Thr
XM_011522715.1:c.2749G>A XP_011521017.1:p.Ala917Thr
XM_011522715.3:c.2749G>A XP_011521017.1:p.Ala917Thr
XM_017023775.2:c.1927G>A XP_016879264.1:p.Ala643Thr
XM_024450471.1:c.2749G>A XP_024306239.1:p.Ala917Thr