Canonical Allele Identifier: CA1200985
Community Standard Title: NM_001778.4(CD48):c.343A>T (p.Thr115Ser)
Gene: CD48 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160684929T>A , CM000663.2:g.160684929T>A GRCh38
NC_000001.10:g.160654719T>A , CM000663.1:g.160654719T>A GRCh37
NC_000001.9:g.158921343T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001778.4:c.343A>T MANE Select NP_001769.2:p.Thr115Ser
ENST00000368046.8:c.343A>T MANE Select ENSP00000357025.3:p.Thr115Ser
NM_001256030.1:c.343A>T NP_001242959.1:p.Thr115Ser
NM_001256030.2:c.343A>T NP_001242959.1:p.Thr115Ser
NM_001778.3:c.343A>T NP_001769.2:p.Thr115Ser
ENST00000368045.3:c.343A>T ENSP00000357024.3:p.Thr115Ser
ENST00000368046.7:c.343A>T ENSP00000357025.3:p.Thr115Ser
ENST00000613788.1:c.343A>T ENSP00000484431.1:p.Thr115Ser
XM_005245625.1:c.343A>T XP_005245682.1:p.Thr115Ser
XM_011510171.1:c.247A>T XP_011508473.1:p.Thr83Ser
XM_011510171.2:c.247A>T XP_011508473.1:p.Thr83Ser
XM_017002867.2:c.83-3461A>T XP_016858356.1:n.83-3461A>T