Canonical Allele Identifier: CA276970041
Community Standard Title: NM_032444.4(SLX4):c.738A>G (p.Gln246=)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3606496T>C , CM000678.2:g.3606496T>C GRCh38
NC_000016.9:g.3656497T>C , CM000678.1:g.3656497T>C GRCh37
NC_000016.8:g.3596498T>C NCBI36
NG_028123.1:g.10089A>G , LRG_503:g.10089A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.738A>G MANE Select NP_115820.2:p.Gln246=
ENST00000294008.4:c.738A>G MANE Select ENSP00000294008.3:p.Gln246=
NM_032444.2:c.738A>G , LRG_503t1:c.738A>G NP_115820.2:p.Gln246=
NM_032444.3:c.738A>G NP_115820.2:p.Gln246=
ENST00000294008.3:c.738A>G ENSP00000294008.3:p.Gln246=
ENST00000466154.5:n.1033A>G
ENST00000486524.1:n.1366A>G
ENST00000697858.1:n.79A>G
XM_011522715.1:c.738A>G XP_011521017.1:p.Gln246=
XM_011522715.3:c.738A>G XP_011521017.1:p.Gln246=
XM_024450471.1:c.738A>G XP_024306239.1:p.Gln246=