Canonical Allele Identifier: CA394516756
Community Standard Title: NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3589013A>T , CM000678.2:g.3589013A>T GRCh38
NC_000016.9:g.3639014A>T , CM000678.1:g.3639014A>T GRCh37
NC_000016.8:g.3579015A>T NCBI36
NG_028123.1:g.27572T>A , LRG_503:g.27572T>A

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.4625T>A MANE Select NP_115820.2:p.Leu1542Ter
ENST00000294008.4:c.4625T>A MANE Select ENSP00000294008.3:p.Leu1542Ter
NM_032444.2:c.4625T>A , LRG_503t1:c.4625T>A NP_115820.2:p.Leu1542Ter
NM_032444.3:c.4625T>A NP_115820.2:p.Leu1542Ter
ENST00000294008.3:c.4625T>A ENSP00000294008.3:p.Leu1542Ter
XM_011522715.1:c.4625T>A XP_011521017.1:p.Leu1542Ter
XM_011522715.3:c.4625T>A XP_011521017.1:p.Leu1542Ter
XM_017023775.2:c.3803T>A XP_016879264.1:p.Leu1268Ter
XM_024450471.1:c.4625T>A XP_024306239.1:p.Leu1542Ter