Canonical Allele Identifier: CA394515241
Community Standard Title: NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
Gene: SLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3583400G>C , CM000678.2:g.3583400G>C GRCh38
NC_000016.9:g.3633401G>C , CM000678.1:g.3633401G>C GRCh37
NC_000016.8:g.3573402G>C NCBI36
NG_028123.1:g.33185C>G , LRG_503:g.33185C>G

Transcript Alleles

HGVS Amino-acid Change
NM_032444.4:c.4850C>G MANE Select NP_115820.2:p.Ser1617Ter
ENST00000294008.4:c.4850C>G MANE Select ENSP00000294008.3:p.Ser1617Ter
NM_032444.2:c.4850C>G , LRG_503t1:c.4850C>G NP_115820.2:p.Ser1617Ter
NM_032444.3:c.4850C>G NP_115820.2:p.Ser1617Ter
ENST00000294008.3:c.4850C>G ENSP00000294008.3:p.Ser1617Ter
XM_011522715.1:c.4847C>G XP_011521017.1:p.Ser1616Ter
XM_011522715.3:c.4847C>G XP_011521017.1:p.Ser1616Ter
XM_017023775.2:c.4028C>G XP_016879264.1:p.Ser1343Ter
XM_024450471.1:c.4850C>G XP_024306239.1:p.Ser1617Ter